2024 Family Heart Global Summit

The

Golden Age of Lipid Lowering: From Innovation to Impact

Letter from our Founder

About the Family Heart Foundation

Our Mission

Co-Chairs and Co-Hosts

Agenda

Sponsors for the 2024 Family Heart Global Summit®

10th Family Heart Global Summit Anniversary

Nobel Laureates: Dr. Michael Brown & Dr. Joseph Goldstein

2024 Pioneer Award: Dr. Helen Hobbs

2024 Keynote Speaker: Dr. Steven E. Nissen

2024 Initiatives

Family Heart Foundation Team

Family Heart Foundation Board of Directors

Family Heart Foundation Scientific Advisory Board

Timeline

Driving Research

Family

Familial Hypercholesterolemia Global Call to Action

Family Heart Community in Action

2024 Family Heart Ambassador Training

Race to Save More Hearts

FH and Lp(a) Awareness Day

CASCADE FH® Registry Site Map

In the News

Welcome to the 10th annual Family Heart Global Summit®, The Golden Age of Lipid Lowering: From Innovation to Impact. We are honored to kick off the Family Heart Global Summit with three world-renowned scientists, Drs. Michael Brown, Joseph Goldstein, and Helen Hobbs. Drs. Brown and Goldstein’s foundational discoveries of lipoprotein metabolism and the role of Apolipoprotein-B (ApoB)-containing lipid fractions in driving atherosclerosis have ushered in several decades of great innovation.

Today, we are at a moment in history when it is tangible to hope for similar success with elevated lipoprotein(a), Lp(a).

However, the diagnosis and management of dyslipidemias in the real world often falls short. Millions of individuals living with atherosclerotic cardiovascular disease (ASCVD) fail to reach an LDL cholesterol level of <70 mg/dL, and those who do often rise above this conservative threshold in less than six months. When it comes to elevated Lp(a), only 2% of those with established disease have ever been screened, according to a recent U.S. analysis from the Family Heart Database™.

The work of the Family Heart Foundation® is to widen the circle of primary care physicians, nurses, policymakers, and the general public, who understand that we can win the fight against heart disease today.

We are grateful to each of you for being leaders in this collective community and for partnering with us in our mission. Because of your work, your bravery, and your commitment, prevention of cardiovascular disease becomes more possible every day.

Katherine A. Wilemon Founder & CEO

Family Heart Global Summit

COLLABORATING FOR IMPACT

Saving more families, more hearts.

For the last 12 years the Family Heart Foundation, formerly known as the Familial Hypercholesterolemia Foundation (FH Foundation), has directly served the needs of individuals and families at high risk for heart disease due to familial hypercholesterolemia (FH), including HeFH and HoFH, the rare and most severe form of FH.

In recent years, we have increasingly addressed the needs of those with elevated lipoprotein(a), also known as Lp(a). After a decade of success as the FH Foundation, we expanded our mission and changed our name to the Family Heart Foundation. Our expanded mission continues to help those impacted by FH, and also aims to help a broader population at risk for heart disease and stroke due to elevated Lp(a). These two conditions, FH and high Lp(a), have much in common: both are genetic disorders, and can cause early cardiovascular disease, yet both are asymptomatic until disease has progressed. Lp(a) and FH are addressed by the incredible network of specialists the Foundation has had the honor to work with over the past decade. Re-

search shows that 1 in 250 adults and children have FH, and 1 in 5 have elevated Lp(a). Many people have both conditions, compounding their risk.

We have extensively published original, innovative research from our Family Heart Database® and CASCADE FH® Registry to improve identification and treatment of people with these inherited lipid disorders. Our experience and expertise in this field positions us to understand key audiences. We are able to provide education, awareness, advocacy, and support to millions of more families at risk. In addition to this, we engage extensively on policy issues related to pediatric screening, prior authorization reform, Pharmacy Benefit Manager (PBM) transparency, and quality measures.

The Family Heart Foundation is committed to continuing our pioneering work in the application of real-world data, patient-driven advocacy, and multi-stakeholder education to help prevent heart attacks and strokes caused by elevated Lp(a) and FH.

Our Mission

The mission of the Family Heart Foundation is to save generations of families from heart disease and stroke through timely identification and improved care of familial hypercholesterolemia (FH) and elevated lipoprotein(a). Through research, advocacy, and education, we drive change and empower families to navigate their own health.

More Education. More Research. More Advocacy.

Global FH and Lp(a) Awareness Days reach millions of people each year.

Family Heart Foundation has over 650 healthcare providers from 40 countries on our Specialist Map.

JournalJournal

Family Heart Foundation has published our research in 45 scientific journal articles in the last 12 years.

Over 28,000 individuals are part of our social media communities.

The Golden Age of Lipid Lowering: From Innovation to Impact

The Family Heart Global Summit® is the only conference solely dedicated to aligning stakeholders and catalyzing solutions to reduce the burden of cardiovascular disease in people with inherited lipid disorders, including familial hypercholesterolemia, homozygous familial hypercholesterolemia, and high lipoprotein(a). The meeting unites mission-aligned people, convenes multidisciplinary professionals, including academia, industry, public health stakeholders, as well as individuals living with inherited lipid disorders to provide engagement through didactic learning, expert panel discussions, and most importantly audience participation.

OUR COLLECTIVE MISSION

Lead scientific advancements in understanding FH and Lp(a)

Identify and engage individuals and families impacted by FH and high Lp(a)

Influence economic and public policies to optimize care for individuals with FH and high Lp(a)

Unite as a global community to drive improved care & outcomes for individuals & families impacted by FH and high Lp(a)

CO-CHAIRS

Christie M. Ballantyne, MD

Cardiovascular Research

Baylor College of Medicine

Family Heart Foundation

Fatima Rodriguez, MD, MPH

Stanford University Medical Center

Laurence Sperling, MD

Emory University

School of Medicine

Million Hearts

Centers for Disease Control and Prevention (CDC) Centers for Medicare and Medicaid Services (CMS)

CO-HOSTS

Joshua W. Knowles, MD, PhD

Stanford Univeristy Medical Center Family Heart Foundation

Katherine Wilemon Family Heart Foundation

The Golden Age of Lipid Lowering: From Innovation to Impact

September 22 & 23 | Dallas, TX

Sunday, September 22:

AGENDA

Opening Ceremony (International Ballroom)

Welcome

Co-Hosts: Joshua W. Knowles, MD, PhD and Katherine A. Wilemon

Co-Chairs: Christie M. Ballantyne, MD, Fatima Rodriguez, MD, MPH, and Laurence Sperling, MD

The Lived Experience of the Golden Age of Lipid Lowering

Past Family Heart Foundation Board Chair: Stacey Lane, JD, MBE

Session 1

50 years of Familial Hypercholesterolemia from Untreatable to (potentially) Curable

Nobel Laureate Roundtable: The Role of Familial Hypercholesterolemia in the Elucidation of the LDL Receptor

Nobel Laureates: Michael S. Brown, MD and Joseph L. Goldstein, MD

The Lived Experience: Valerie Harrell and Treva Grey

Moderators: Christie Ballantyne, MD and Katherine A. Wilemon

Discussion with Q & A

BREAK

Family Heart Foundation Progress Report: Familial Hypercholesterolemia in America

Joshua W. Knowles, MD, PhD

The Lived Experience

Tim Ouellette, Family Heart Ambassador

Family Heart Pioneer Award and Keynote Lecture: Getting to the Heart of the Matter – The Story Continues

Helen Hobbs, MD

Discussion with Q & A 1:30 pm 1:50 pm 2:50 pm 3:10 pm

Day 1 Closing and Group Picture

10 Year Summit Anniversary Reception (Roof Top Terrace)

Family Heart Global Summit – Day 2

Breakfast (Venetian)

Welcome (International Ballroom)

Joshua W. Knowles, MD, PhD and Katherine A. Wilemon

Session 2

LDL-C Control: Moving Targets, Many Options, Limited Success

The Lived Experience

Ally Mast, Family Heart Ambassador

LDL-C Management Trends - New Analysis from the Family Heart Database™

Keith C. Ferdinand, MD

Combatting Statin & Cholesterol Misinformation to Improve Patient Care

Heather M. Johnson, MD, MS

The 40th Anniversary of the Heckler Report: Are We Making Progress in Reducing Healthcare Disparities?

Clyde W. Yancy, MD, MSc

Recent Advances in Non-Statin LDL-C Lowering Therapies

Christie M. Ballantyne, MD

Panel Discussion

Panelists: Keith Ferdinand, MD, Heather M. Johnson, MD, MS, Ally Mast, and Clyde Yancy, MD, MSc

Moderator: Christie M. Ballantyne, MD

Session 3

Monday, September 23: 7:30 am 8:30 am 8:35 am 9:45 am 4:45 pm 5:00 pm

Technological Innovation in Healthcare: Are We Harnessing the Potential?

The Lived Experience

Hans Hammers, MD, PhD, Individual found through the FIND FH® program

Accelerating Health Care Transformation

Khurram Nasir, MD, MPH, MSc

Using AI to Improve Health Equity

Fatima Rodriguez, MD, MPH

A Pragmatic EMR-Based Approach to Improving Lipid Control: The PROMPT-Lipid Trial

Nihar Desai, MD, MPH

Novel Strategies to Identify People with Familial Hypercholesterolemia (FIND FH®)

Amit Khera, MD, MSc

Panel Discussion

Panelists: Nihar Desai, MD, MPH, Hans Hammers, MD, PhD, Amit Khera, MD, MSc, and Khurram Nasir, MD, MPH, MSc

Moderator: Fatima Rodriguez, MD, MPH

BREAK

Session 4

Pediatric Screening: From Personal to Policy

The Lived Experience

Kate Robinson, Family Heart Ambassador

Towards the Gold Standard: Why Childhood Screening is Both Necessary and Achievable

Tomáš Freiberger, MD, PhD

Pediatric Screening in the US: Why NHLBI and AAP Got it Right!

Amy Peterson, MD, MS

Improvement Science Increases Routine Lipid Screening in Outpatient Pediatric Cardiology

Jonathon N. Flyer, MD

Panel Discussion

Panelists: Tomáš Freiberger, MD, PhD, Amy Peterson, MD, MS, and Kate Robinson

Moderator: Jonathan N. Flyer, MD

LUNCH (Venetian)

Keynote Lecture: From LDL-C to Lp(a) – Those Who Fail to Learn from History Are Doomed to Repeat It

Steven E. Nissen, MD

Discussion with Q&A

Session 5

Lp(a): New Science, New Treatments – Will Patients Benefit?

The Lived Experience

Gail Titus, Family Heart Ambassador

11:05 am 2:25 pm 1:30 pm 10:50 am 12:00 pm

The Link Between Lp(a) Levels and Recurrent ASCVD Events: A New Analysis from the Family Heart Database™

Seth J. Baum, MD

Universal Screening: Why Screen Now?

Harpreet S. Bhatia, MD, MAS

The Future Looks Bright: Emerging Treatments for Lipoprotein(a)

Michelle L. O’Donoghue, MD, MPH

Panel Discussion

Panelists: Harpreet Bhatia, MD, MAS, Michelle O’Donoghue, MD, MPH, and Gail Titus

Moderator: Seth Baum, MD

BREAK

Session 6

FH & Lp(a) as a Population Health Challenge: Implementing & Sustaining Strategies that Work

The Lived Experience

Lisa Remshik, MSN, RN, Family Heart Ambassador

The Red Dress, What Lessons Have We Learned?

Martha Gulati, MD, MS

The Power of the Team, Technology and Coordinated Care to Improve Control of CVD Risk Factors

Benjamin M. Scirica, MD, MPH

Population Health Approaches to Accelerate the Prevention of CVD: Moving from Action to Impact

Laurence S. Sperling, MD

Panel Discussion

Panelists: Martha Gulati, MD, MS, Lisa Remshik, MSN, RN, and Benjamin M. Scirica, MD, MPH

Moderator: Laurence Sperling, MD

Call to Action

Co-Hosts: Joshua W. Knowles, MD, PhD and Katherine A. Wilemon

Co-Chairs: Christie M. Ballantyne, MD, Fatima Rodriguez, MD, MPH, and Laurence Sperling, MD

The Family Heart Foundation® would like to thank our 2024 Family Heart Global Summit® sponsors for their continued commitment to driving the prevention of cardiovascular disease.

“Since my sister’s death, my mom, grandmother and I have joined the Family Heart Foundation as Ambassadors to help bring high Lp(a) to light as an incredibly common and deadly condition. We are aiming to reach patients, families and healthcare providers.”

— Courtney Riley, MD Family Heart Ambassador Family Heart Board Member

“Since I was diagnosed with FH, my life has become more purposeful, thanks to the Family Heart Foundation. I realized that FH is a condition that can be managed and I can live an active and fulfilled life. FH does not define me.”

— Judy O. Family Heart Ambassador

Celebrating Ten Years of the Family Heart Global Summit: Innovating Heart Health Research, Advocacy, and Care

For over a decade, the Family Heart Foundation has gathered leading minds working to advance diagnosis, research, and care for people living with familial hypercholesterolemia (FH) and elevated lipoprotein(a), or Lp(a), for the annual Family Heart Global Summit.

The intention of the two-day event is to provide in-depth learning, networking, and collaborative opportunity for thought leaders, clinicians, researchers, advocates, and people with lived experiences to share their work, their stories, and accelerate efforts to prevent heart disease among the most vulnerable populations.

This Global Summit has become a cornerstone of progress in understanding and treating FH and elevated Lp(a), building bridges between research, clinical practice, and communities; and uniting on our mission to create real, sustained system changes for families and their care teams. During these gatherings, we’ve united to develop important programs and research, including setting the groundwork and launch of the CASCADE registry, the FIND initiative, and Care Navigation to name a few.

We are proud to have had over 2500 participants join us over the past decade from across the United States and from every continent on the globe (except for Antarctica) to catalyze change and establish best practices for FH and Lp(a).

The Family Heart Global Summit is not just a meeting; it is a call to action.

Over the past ten years, the Family Heart Foundation and our partners have truly set new standards, implemented data-driven benchmarks, and transformed the landscape of heart health by fostering collaboration, sparking innovation, and driving advocacy through the annual Family Heart Global Summit.

We’ve been fortunate enough to hear from a variety of fascinating and influential speakers including Dr. Michael Brown, Dr. Joseph Goldstein, Dr. Nanette Wenger, Dr Avedis Khachadurian, Professor Catherine Boileau, Dr. Anne Tybjærg-Hansen, Dr. Børge G. Noordestgaard, Dr. George Mensah, Dr. Kristen Bibbins-Domingo, and many more.

2023

None of this would have ever been possible without the work of the Family Heart Foundation Team and key leaders in the organization. We are forever grateful to the work of Katherine Wilemon, Dr. Joshua Knowles, Dr. Dan Rader, Cat Davis Ahmed, Dr. James Underberg, Dr. Mary McGowan, Dr. Seth Baum, Dr. William Neal, Stacey Lane, Allison Jamison, and more.

Thank you for being here. The Family Heart Global Summit is what it is because you have taken the time to lean in, learn and unlearn, and push to new levels. It is because of you that we are able to establish new standards that will save more families, more hearts.

Please continue to share in our mission and with our community. You can view real-time Family Heart Global Summit engagement on your favorite social media platform by following #FamilyHeartSummit24.

For more information about the Family Heart Global Summit and post-event content and impact, visit FamilyHeart.org/Summit.

Let’s celebrate this milestone together and look ahead to another decade of impactful research, advocacy, and care in heart health.

Familial Hypercholesterolemia Summit

Annapolis, MD

Since our inception as the FH Foundation in 2013, what began as a small-scale gathering in Washington, D.C., has evolved into the premier FH and Lp(a) global forum, along with our organization expansion as the Family Heart Foundation. Each year, the Summit builds on its past success, addressing evolving challenges and opportunities to push the envelope on what is possible for heart health.

Bridging the Gaps in Care of Familial Hypercholesterolemia

New York, NY

Our 2nd Summit took place in New York City, where we met once again – this time with a theme for our efforts. During this FH Global Summit we explored the topic of bridging gaps in care in FH – from the undiagnosed to the diagnosed, from primary care to specialty care, and how to go from treating the individual to treating the family. We held a global panel to hear from our colleagues around the world and find ways to learn from one another.

Familial Hypercholesterolemia at the Crossroads Pasadena, CA

In 2015, with the promise of the new PCSK9 inhibitor therapy, we reached a crossroads in the way we care for FH. As we all arrived in Pasadena, we brought the hope and optimism of new treatments, knowing this was a pivotal moment, a time to decide where to go next in saving the lives of those effected by FH.

Translational Medicine in Familial Hypercholesterolemia

Dallas, TX

The 2016 FH Foundation Global Summit took us to Texas, the stomping ground of legendary scientists Dr. Michael Brown and Dr. Joseph Goldstein. We honored them with a Pioneer Award and they honored us with a keynote delivery on their groundbreaking discoveries that revolutionized our understanding of the role of LDL cholesterol in cardiovascular disease.

Familial Hypercholesterolemia: Diagnosis, Treatment & Access Across Diverse Populations

Miami, FL

Each year, we design our program to reflect the evolution of scientific knowledge and the complex reality of healthcare delivery. That’s why when data from our CASCADE FH® Registry showed that women with FH are not started on therapy until significantly later than men, and that non-white populations have been underrepresented and understudied in FH, we focused our Summit on diagnosis, treatment, and access across diverse populations. We honored Dr. Nanette Wenger who is widely recognized for her commitment to reducing women’s morbidity and mortality from cardiovascular disease, and reversal of the belief that cardiovascular disease is a “man’s disease.”

Familial Hypercholesterolemia: Implementation Science for Health Impact

Marina del Rey, CA

In 2018, we turned our focus to implementation science and its ability to make a health impact. We knew the tools were there, so it was time to look at where they’re being lost or dropped along the healthcare journey. We also announced a Global Call to Action to update the original recommendations from the 1998 World Health Organization’s Report on FH. We partnered with World Heart Federation (WHF) to convene the international FH Community of impacted individuals, advocacy leaders, international associations, scientific experts, policymakers and the original authors of the 1998 report to collaborate together to reexamine the recommendations and update them to meet the needs of today’s FH population.

Familial Hypercholesterolemia: A Prototype for Precision Public Health Atlanta, GA

We traveled to Atlanta for the 2019 FH Global Summit where we took a hard look at the ways that FH provides a perfect prototype for precision public health. We had no idea that would be our last Summit for several years.

Familial Hypercholesterolemia: Driving Solutions to Prevent Inherited Cardiovascular Disease Virtual

As we optimistically soared into 2020, the world was forever changed by the COVID-19 pandemic. We continued to convene and connect virtually, but we longed for the in-person collaboration that changes systems and shifts the status quo. During this time, we took a look at the landscape of cardiovascular disease and expanded our mission. We could no longer ignore the call to provide research and advocacy for those living with genetically elevated lipoprotein(a). We answered the call and became the Family Heart Foundation.

Through a Wider Lens: Lipid Management Across Populations and Lifetimes Washington, DC

We re-emerged in 2023 as the Family Heart Foundation Global Summit. Just as we had widened the people we serve, we asked our attendees to widen their lens. This year’s event focused on two intersecting questions. We focused on two very important questions. First, why do many innovations in healthcare (scientific discoveries, novel therapies, process improvements) fall short of their life-saving potential in the real world? Second, how can we address the uneven uptake of innovations in cardiovascular care that disproportionately fail to benefit non-white populations and women?

The Golden Age of Lipid Lowering: From Innovation to Impact Dallas, TX

The Golden Age of Lipid Lowering: From Innovation to Impact

Michael Brown, MD & Joseph Goldstein, MD

A Tribute to the

Nobel Laureates

Nobel Laureates, Dr. Michael Brown and Dr. Joseph Goldstein, are well known for their landmark discovery of the low density lipoprotein (LDL) cell surface receptor, which led to advances in the understanding of cholesterol metabolism and regulatory functions in cell biology. Their advancements led to an understanding of cell feedback regulation, a concept that is essential for the action of statins in lowering LDL cholesterol. Their foundational research paved the way for the development of statins, which continue to be the cornerstone of LDL-lowering therapies and are fundamental to cardiovascular disease prevention.

Drs. Brown and Goldstein first met at the Massachusetts General Hospital in Boston, where they both interned from 1966 to 1968. Dr. Goldstein grew up in South Carolina; an avid reader, he became editor of his high school newspaper and went on to major in chemistry as an undergraduate at Washington and Lee University. Following this he attended University of Texas Southwestern (UTSW) medical school. Dr. Brown was born in Brooklyn and moved to Philadelphia at age 11, where he became interested in building radio transmitters and became the sports editor for his high school newspaper. He attended the University of Pennsylvania on a full scholarship and,

“We were working day and night to solve these problems, so that kept us together. We gained great respect for each other’s intellect and talent and honesty.”

Michael Brown, MD

like Dr. Goldstein, studied chemistry; he also attended U Penn for medical school.

During their time at Mass General, the doctors collaborated on patient care and built a working relationship founded on friendship and mutual respect. Following their internship, both doctors spent several years conducting research for NIH, after which they reunited at the University of Texas Southwestern Medical School (UTSW) as professors and researchers. In 1974, while investigating the potential cause of familial hypercholesterolemia (FH), Drs. Brown and Goldstein found high affinity receptors on the cell surface that bind to cholesterol-carrying LDL particles. With further research, they were able to show that FH was caused by inherited mutant LDL receptor genes that led to the high elevation of blood cholesterol. That year, they published a paper in the scientific journal Proceedings of the National Academy of Sciences (PNAS) entitled “Familial hypercholesterolemia: Defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity,” which laid the foundation for their continued research. Over the next decade the duo published more than 100 major scientific papers. In 1985, Drs. Brown and Goldstein received the Nobel Prize in Medicine “for their discoveries concerning the regulation of cholesterol metabolism,” representing the first Nobel

“It’s hard to explain how we work together. I think the key thing is a constant dialogue. Somehow all the nonsense gets weeded out along the way and one ends up with the best way to approach a problem.

— Joseph Goldstein, MD

2016 FH Global Summit, Dallas, TX

Prize in Medicine to be awarded for research conducted exclusively in Texas. Their discovery of low-density protein and its role in the metabolism of cholesterol, and the subsequent cardiovascular risks that develop with insufficiencies in LDL receptors, was a pioneering discovery that led to the development of statins, furthering innovations in mitigating cardiovascular risk and saving countless lives. To this day, these cholesterol lowering drugs remain the gold standard treatment, preventing heart disease and saving the lives of millions of individuals worldwide each year.

And now, in this Golden Age of Lipid Lowering, Drs. Brown and Goldstein continue to impact the medical community, both on and off the university campus. Dr. Brown is the Director of the Erik Jonsson Center for Research in

From Mystery to Hope

A few years back, there was a conference featuring one of Drs. Joseph Goldstein and Michael Brown, who had worked on developing statins. Dr. Goldstein shared the story about his long career studying homozygous familial hypercholesterolemia, or HoFH, and how it had all started when he and his colleague, Dr. Brown, were studying a little girl and her brother at the National Institutes of Health (NIH) in the 1960s. Sitting in the audience was a lipid specialist from Houston. After the doctor’s address, the lipid specialist introduced himself and said something that shocked the doctor: “That little girl you talked about in your story? She’s my patient.” Dr. Goldstein couldn’t believe she was alive after almost 50 years. But she was. I should know – I was that little girl. And I’m alive today because of all the doctors and researchers like Drs. Goldstein and Brown who worked to develop treatments, but also because of the strength and support of my family and my own persistence to push forward and keep fighting.

Thank you for inviting me to share mine and my mother’s story about living with HoFH.

Molecular Genetics and Human Disease and Dr. Goldstein is the Chair of Molecular Genetics. Both continue their legacy as Professors of Molecular Genetics and Internal Medicine; in their time at UTSW they have mentored over 175 students and postdoctoral fellows.

April 1969 – Valerie and her brother, Clark, both with HoFH, in front of the NIH building.

We entered the NIH in Bethesda, Maryland hoping to find some type of treatment for this disease. We were introduced to many doctors who were interested in working on lipids. At least a couple of times a week all the doctors would have major rounds and visit patients. Our family was introduced to Dr. Goldstein during floor rounds not long after we arrived. He was very interested and fascinated with our disease and the lack of treatment options. He began making individual visits and having long discussions with our family (my mother especially, since we were so young) concerning everything from diet to lifestyle. He became more than just another doctor to us. Dr. Goldstein became our mentor, our instructor, and mainly our good friend, who might be able to give us hope.

Almost 50 years to the day, after the first day we met, I got the chance to meet Drs. Goldstein and Brown once again. I was connected by an author who was working on a book that featured them, and the author discovered my name during their research. Though the Dr. Goldstein was so young at the time, he stood out to us because he took the time to sit down with my mother, and he was curious about my case. When they were recording the audio version of the book, my mother and I were invited to meet him and Dr. Brown. It was so surreal sitting across from Dr. Goldstein again, reintroducing him to my mom, and introducing him to my husband. He told me about sitting up late at night with Dr. Brown in the NIH cafeteria talking about my case and how it led him to study lipids, changing the whole trajectory of his career. It was an amazing full circle moment, and it just goes to show that any one person can make a difference and can provide hope. I hope I can continue doing that for others for as long as I can.

Written by Valerie Harrell

Individual Living with HoFH

"We

split each year between home and the NIH; when we were home, we worked hard on the farm, went to school, and played some sports. At school, most of our classmates got to know us and understand what we were going through. We were different but accepted." – Varlerie Harrell

1972 – Treva (mother of Valerie and Clark) stands with Clark outside of the NIH Building. (left)

1977 – Side profile of Clark (bottom)

Clark tragically passed in 1978 during open-heart surgery at the age of 14 due to his HoFH.

1972 – Valerie making crafts with Mrs. Board at NIH

1969 – Valerie and Clark inside their room at NIH

Helen Hobbs, MD

Keynote Speaker

Family Heart Foundation 2024 Pioneer Award

Renowned researcher Helen Hobbs, MD, has devoted her career to the study of human biology and molecular genetics. A true pioneer in the field of medical research, Dr. Hobbs designed the Dallas Heart Study, which discovered variations in the PCSK9 gene, representing a breakthrough in our understanding of cholesterol homeostasis. These discoveries, and Dr. Hobbs’ work in the field, led to the development of the groundbreaking PCSK9 inhibitor therapy. This discovery has revolutionized the management of atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia.

Despite a lifelong interest in science, Dr. Hobbs did not initially see herself pursuing a career in research or medicine. But after devoting her first year of undergraduate school to studying art history she missed the feeling of uncovering absolute truths, and soon after left the subjective world of art for the objectivity of medicine. After medical school she interned at Columbia-Presbyterian Medical Center, followed by a residency at the University of Texas Southwestern (UTSW) Medical Center.

In 1983, Dr. Hobbs joined the UTSW lab of Drs. Michael Brown and Jospeh Goldstein. Just two

years later, the two researchers would win the Nobel Prize for their discoveries surrounding the LDL receptor. In her time in this lab, Dr. Hobbs and her scientific partner, geneticist Dr. Jonathan Cohen, launched the Dallas Heart Study – a longitudinal, multiethnic, population-based study of Dallas County. When Dr. Hobbs became aware of observations about a genetic defect in the PCSK9 gene and its association with hypercholesterolemia, she thought, if too much PCSK9 provokes high LDL cholesterol (LDL-C) levels, maybe too little would deplete it.

Through the Dallas Heart Study, Dr. Hobbs found a healthy individual with two faulty copies of the PCSK9 gene, no detectable PCSK9 in their blood, and extraordinarily low levels of LDL-C. This suggested that a PCSK9-inhibiting drug could be safe and effective for patients with extraordinarily high levels of LDL-C. The idea was adopted by pharmaceutical companies, and after years of research and the collection of clinical evidence, the first PCSK9inhibitor therapies were approved by the Food and Drug Administration in 2015. Since then, PCSK9 inhibitors have revolutionized LDL-C lowering, offering new, life-saving medications for patients with familial hypercholesterolemia.

Dr. Hobbs is currently an Investigator of the Howard Hughes Medical Institute and a Professor of Internal Medicine and

Molecular Genetics at the University of Texas Southwestern Medical Center where her work focuses on defining the genetic determinants of plasma lipid levels and cardiovascular risk. Most recently, she has identified genetic variations that confer susceptibility to fatty liver disease. Her list of accolades is long and includes the inaugural International Society of Atherosclerosis Prize, the Pearl Meister Greengard Award, the Breakthrough Prize in Life Sciences, the Passano Award, the Harrington Prize for Innovation in Medicine, the Lefoulon-Delalande Grand Prize in Science, the Gerald D. Aurbach Award for Outstanding Translational Research, and the Anitschkow Prize. This year, the Family Heart Foundation honors Dr. Hobbs for her lifelong devotion to research and medicine by awarding her the 2024 Family Heart Foundation Pioneer Award.

“Scientific investigation always starts with a question. Get in the habit of asking and then trying to answer your questions. In the process of following your curiosity, you will discover what is known and what is not known.”

— Helen Hobbs, MD

Dr. Jonathan Cohen with Dr. Helen Hobbs

Steven E. Nissen, MD

Keynote Speaker

Professor of Medicine and the Lewis and Patricia Dickey Chair in Cardiovascular Medicine at the Lerner College of Medicine

Chief Academic Officer for the Heart and Vascular Institute at the Cleveland Clinic

“Seeing so many high-risk patients with suboptimal LDL-C who are not on therapy has been very frustrating for those of us who have spent a lot of time demonstrating that lower levels of LDL-C are beneficial… We need more education directed at the general public and we need more education for physicians to overcome clinical inertia.”

Dr. Steven E. Nissen is the Chief Academic Officer of the Heart and Vascular Institute at the Cleveland Clinic and Professor of Medicine at the Lerner College of Medicine. In 1987, Dr. Nissen started gaining attention when he recognized that the latest ultrasound imaging devices could be miniaturized and threaded into the beating heart to reveal the exact composition of plaque in the arteries. This technique has been foundational in documenting the widespread prevalence of coronary artery disease.

Since then, Dr. Nissen has contributed to more than 600 journal articles, served as the 2006-2007 President of the American College of Cardiology, and was named one of the world’s 100 most influential people by

“Time Magazine” in 2007. He also manages C5Research (Cleveland Clinic Coordinating Center for Clinical Research), an organization at the Cleveland Clinic that partners with industry in conducting clinical trials. He specializes in lipid-metabolic, diabetes and obesity trials, but has directed trials as study chair for clinical trials in multiple areas of cardiovascular medicine. As of 2015, Dr. Nissen was named by Thompson-Reuters as one of the world’s most highly cited physician-scientists. We thank Dr. Nissen for his call for action to the field: advocate for policies and system flows that support screening and treatment coverage. Meet providers where they are at with education and training. Support patients with messages and resources that resonate.

Because a simple blood test for elevated Lp(a) can help inform a lifetime of cardiovascular care.1,2

References: 1. Farzam K, Senthilkumaran S. Lipoprotein A. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Updated September 2, 2022. Accessed August 25, 2023. https://www.statpearls.com/ArticleLibrary/viewarticle/130795 2. Kronenberg F, Mora S, Stroes ESG, et al. Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: A European Atherosclerosis Society consensus statement. Eur Heart J. 2022;43(39):3925-3946.

0 2 4 I

CASCADE FH® Registry

Conducting a longitudinal observational study to understand the FH population in the U.S.

Family Heart Care Navigation Center

Comprehensive support to help navigate the healthcare journey for people with FH, elevated Lp(a), and high LDL Cholesterol.

Cholesterol Connect™

Providing free, comprehensive lipid screening and support to improve outcomes for people with high LDL Cholesterol and/or elevated Lp(a).

Community Activation for FH, HoFH and Lp(a)

Volunteers who help raise awareness, tell their stories, and support other individuals with FH, HoFH, elevated Lp(a) and polygenic lipid disorders and their families.

Corporate Advisory Council

A committed group of Family Heart Foundation corporate partners.

Family Heart Global Summit®

Bringing together world-renowned leaders within and beyond the field of FH and high Lp(a) to address gaps in care.

FH Awareness Day – September 24

Raising awareness of familial hypercholesterolemia across the globe. #KnowFH

Flag, Identify, Network, Deliver™ (FIND) Initiative

FIND FH® & FIND Lp(a)™

Identifying and engaging the undiagnosed FH and high Lp(a) populations in the U.S.

Family Heart Database™

Harnessing the power of big data to yield new insights into FH and Lp(a) in a real-world setting.

Getting On Appropriate Lipid (GOAL) Management

Engaging patients, payers, and healthcare practitioners to improve awareness, treatment, and control of LDL Cholesterol in America. Learn more at LDLSafeZone.com.

Leveraging Evidence And Data (LEAD) for LDL Optimal Care Pathway

Developing clear, consumer-focused recommendations to support people on their journey to the LDL Safe Zone.

Leveraging Evidence And Data (LEAD) for Pediatric Cholesterol Screening

Raising awareness of universal pediatric lipid screening guidelines in order to reduce the number of early ASCVD preventable deaths by early diagnosis and treatment.

Lp(a) Awareness Day – March 24

Raising awareness of lipoprotein(a) across the globe. #KnowLpa

Scan to learn more about these programs

Family Heart Foundation Team

Mackenzie Ames Content Manager

Ann Dodge, RN, MS, APNP Senior Care Navigator

Shani Bardach Director of FIND

Suzanne Woodward VP of Communications & PR

Lori Key, RN Senior Clinical Associate

Barbara Gladders Senior Data Analyst

Allison Hawke VP of Operations

Susan Marie Seim Creative Director

Katherine A. Wilemon Founder and CEO

George Blike, MD Chief Quality & Value Officer

Diane MacDougall, MS VP of Science & Research

Hilly Paige, Jr. Chief Innovation Officer

Family Heart Foundation Team

Susan Childers Administrative Assistant

Jacklyn Stephens Graphic Designer

Eric P. Tricou, MS, CGC Care Navigator

Kellyn Van Poppering Program Manager

Jen Farnell Manager of Community & Patient Insights

Funke Oladele CLN Coordinator

Aurora Sullivan, MPH Care Navigator

“I started to put things together. I researched, formulated a hypothesis, and figured out I might have familial hypercholesterolemia.”

— Bri S.

Family Heart Ambassador

“Our

family history tells a sad story of untreated familial hypercholesterolemia and elevated lipoprotein(a)... Luckily, I found the Family Heart Foundation, and with it, the support of many others who had had similar experiences.”

— Kathy T. Family Heart Ambassador

Board of Directors

Chairman of the Board Chief Research Advisor

Casey Walsh Board Member

Allison Jamison, MBA Treasurer

Courtney Riley, MD Board Member

Katherine A. Wilemon Board Member Founder & CEO

Keith Ferdinand, MD Board Member

Joshua W. Knowles, MD, PhD

Brian S. Mittman, PhD Board Member

Seth Baum, MD Vice Chairman of the Board

Lisa

Weill Cornell Medical College Pediatric

Stanford University Family Heart Foundation

University of Wisconsin School of Medicine and Public Health

Joshua W. Knowles, MD, PhD

Zahid Ahmad, MD UT Southwestern Medical Center

Christie Ballantyne, MD Baylor College of Medicine

Linda Hemphill, MD Massachusetts General Hospital

Hudgins, MD

Daniel J. Rader, MD

UPENN Perelman School of Medicine Family Heart Foundation

Amy Curry Sturm, MS, LGC 23 and Me

Amy Peterson, MD

Eric Brandt, MD University of Michigan Institute for Healthcare Policy & Innovation

Abha Khandelwal, MD Stanford University

Seth Baum, MD Preventive Cardiology, Inc Flourish Research

Patrick Moriarty, MD Kansas University Medical Center

Anne Tybjærg-Hansen, MD University of Copenhagen, Copenhagen, Denmark

Henry Ginsberg, MD

Columbia University Irving Medical Center

Gissette Reyes-Soffer, MD

Columbia University Irving Medical Center

Calvin Yeang, MD UC San Diego Health

12 years of research, advocacy, and education

ICD-10 Codes for FH approved

1.3 million Americans with probable FH mapped through FIND FH

1st Annual Advocacy Visit to Capitol Hill

FOCUS Initiative launched

Launched Family Heart Database™

1st annual FH Awareness Day

FDA Advisory Committee Meeting for Lomitapide and Mipomersen

First use of #KnowFH for FH Awareness Day

Application for FH ICD-10 Codes

FH Global Summit®: Bridging the Gaps

2013

2014

1st Ambassador training

FH Foundation founded December 2011

1st annual FH Global Summit: Awareness to Action

CASCADE FH® Registry established

CASCADE FH Registry online self-enrollment portal in multiple languages

Joined the Genomics and Population Health Action Collaborative (GPHAC)

FH Global Summit: Translational Medicine in FH

Pioneer Award: Michael S. Brown, MD & Joseph L. Goldstein, MD

2015

2016

FIND FH® initiative launched

HoFH Community established

FDA Advisory Committee Meeting for PCSK9 inhibitors

1st FH Awareness outdoor campaign

FH Global Summit: FH at the Crossroads

1st Annual Pioneer Award: Avedis K. Khachadurian, MD

1st annual virtual Race to Save More Hearts fundraiser

FH Global Summit: Familial Hypercholesterolemia: Diagnosis, Treatment, & Access Across Diverse Populations

Pioneer Award: Nanette Wenger, MD Meeting of Americas

FH Diagnosis app launched

FH Awareness Day reaches 30 million people around the world

Clinical Utility of Genetic Testing Statement published

FH Can’t Wait educational campaign

Convened FH Global Call to Action

1st HoFH Community Gathering

FH Global Summit: Familial Hypercholesterolemia: Implementation Science for Health Impact

Pioneer Award: Roger R. Williams, MD

FH Global Call to Action published

FH Global Summit: Familial Hypercholesterolemia: Driving solutions to prevent inherited cardiovascular disease

Pioneer Award: Robert A. Hegele, MD, FRCPC, FACP

Family Heart Foundation Research: Identifying Disparities for Individuals with FH

Family Heart Foundation Research: Children With HoFH Miss Out On Decades Of Life-Saving Treatment

Family Heart

Foundation Research: High Lp(a) Increases Cardiovascular Events

Family Heart

Foundation Research: Few physicians screen for elevated Lp(a)

Family Heart Foundation Research: FH Diagnosis Increases to 30%

"Runs in the Family is not a diagnosis” Campaign

1st Lp(a) Awareness Day on March 24th

2021

2018

2020

FH Global Summit: FH as a Prototype for Precision Public Health

Pioneer Award: Catherine Boileau, PharmD, PhD

Effect of Access on Cardiovascular Outcomes published

4th Annual Advocacy visit to Capitol Hill

FH Global Call to Action initiated

FIND FH validated in multiple institutions

Family Heart Global Summit: The Golden Age of Lipid Lowering: From Innovation to Impact

Launched Family Heart LDL-C and Lp(a) screening program

Published “Universal pediatric screening for familial hypercholesterolemia”

Published “Trends in Patient Access to and Utilization of Prescribed PCSK9 Inhibitors in a Large US Claims Database From 2015 to 2021”

Launched LEAD for Pediatric Cholesterol Screening Initiative

Launched LEAD LDL Optimal Care Pathway Initiative

2023

2022

10 Year Anniversary: Expanded mission to include Lp(a) and became the Family Heart Foundation

Launched Care Navigation Center

Publication - COVID-19 associated risks of myocardial infarction in persons with FH with or without ASCVD

Family Heart Congressional Hearing in Washington D.C.

2024

Family Heart Global Summit®: Through a Wider Lens: Lipid Management Across Populations and Lifetimes

Pioneer Award: Anne Tybjærg-Hansen, MD, DMSc and Børge G. Nordestgaard, MD, DMSc

Launched FIND Lp(a)

Published “Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry”

LDL Safe Zone Campaign

Letters to the JAMA editor: “Regarding: USPSTF Recommendation on Screening for Lipid Disorders in Children and Adolescents”

Participated in Atlantic’s Health Equity Summit to educate on the PPPLLL Data

Driving Research

For the last decade, the Family Heart Foundation has driven research to reveal gaps in FH diagnosis and care and develop solutions in order to prevent early heart disease. More recently, our research efforts have expanded to address similar issues with elevated Lp(a). Our research is focused on problemsolving and addressing the most urgent needs of individuals and families at high genetic risk for early cardiovascular disease.

CASCADE FH® Registry Research

In 2013, we created the only national long-term FH research study in the U.S. – the CASCADE FH Registry. The Registry follows adults and children with FH and HoFH at 40 leading health systems. We have published research from the Registry in several impactful journals. Because of this research, we know that too many adults with FH are diagnosed decades too late (on average of 48 years), more than half of adults are still not achieving LDL-C goals, and rates of cardiac events remain far too high.

Our paper on 67 subjects with HoFH, appeared in the Journal of the American Heart Association in April 2023. The data showed a substantial improvement between LDL-C pre-treatment values and follow up values. Not surprisingly, this patient population requires multiple lipid lowering agents to achieve their LDL-C goal. With the availability of newer medications specific to HoFH, reaching LDL-C goals is possible.

Family Heart Database™

In order to accelerate the understanding and diagnosis of FH and elevated Lp(a) in the U.S., the Family Heart Foundation has developed and maintains the Family Heart Database. This includes diagnosis, procedure, prescription, and lab data on over 324 million individuals. Insights from this data allow us to better understand current care and to advocate with policy makers to ensure individuals with FH and elevated Lp(a) receive optimal care. In 2019, the Family Heart Foundation published a landmark paper, “Effect of Access to Prescribed PCSK9 Inhibitors on Cardiovascular Outcomes.” This paper showed that individuals whose prescribed PCSK9 inhibitor treatment was rejected by their insurance plan or was not filled had a higher rate of cardiovascular events within 12 months compared to those who were treated with PCSK9 inhibitors. More recently, we published a follow up to this research. From the time we conducted our initial research until

2019, there were four significant events affecting PCSK9i access. These events should have addressed concerns from insurance companies about the value of treating people living with diseased arteries or at high-risk of cardiovascular disease:

• Outcomes trials were published showing PCSK9i medications significantly reduce cardiovascular events.

• Guidelines for doctors now recommend PCSK9i use in high-risk patients.

• There was a 60% reduction in price for both PCSK9 inhibitors.

• The FDA expanded the label for both available medications to reflect the fact that PCSK9is reduce cardiovascular events.

When we looked at data from 2019 to 2021, we found that nearly a third of PCSK9i prescriptions were still being rejected.

Flag Identify Network Deliver™ FIND Initiative

To address the low rate of diagnosis, in 2014 the Family Heart Foundation developed a machine learning model we call FIND FH®

FIND FH can recognize and flag individuals who look like they have FH by analyzing data in electronic health records. The FIND FH Program couples the machine learning model with implementation strategies and tools to facilitate patient outreach and support. We are now partnering with multiple health systems to run FIND FH and diagnose new individuals with FH. We launched a similar initiative for Lp(a), FIND Lp(a)™, in September 2023.

Incorporating the Patient Perspective

Core to our research philosophy is incorporating the patient voice. We are collaborating with health systems on multiple grants that leverage the latest in implementation science and behavioral economics using focus groups, interviews, and other techniques to ensure that the patient perspective is incorporated in research from the beginning and throughout. Some of these grants couple the FIND machine learning model with other new tools and approaches to improve diagnosis and treatment, while others focus on facilitating cascade family screening.

This research is made possible by the generous support of our donors, corporate partners, and federal grants.

Research Publications

Universal Pediatric Cholesterol Screening: The Time Has Come!

The Journal of Pediatrics 2024 | McGowan, M, et al.

Trends in Patient Access to and Utilization of Prescribed PCSK9i Inhibitors in a Large US Claims Database From 2015 to 2021

Circulation 2024 | MacDougall, D, et al.

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States

World Heart Federation 2024 | Gidding, S, et al.

2023

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Journal of the American Heart Association 2023 | Cuchel, M, et al.

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

Journal of the American Heart Association 2023 | Gidding, S, et al.

Genetic Testing for Familial Hypercholesterolemia in Clinical Practice

Current Atherosclerosis Reports 2023 | Tricou, E, et al.

Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia

Current Atherosclerosis Reports 2023 | CampbellSalome, G, et al.

2021 (continued)

Implementation of a Machine-Learning Algorithm in the Electronic Health Record for Targeted Screening for Familial Hypercholesterolemia

Circulation: Cardiovascular Quality and Outcomes 2021 | Samip, S, et al.

COVID-19 associated risks of myocardial infarction in persons with familial hypercholesterolemia with or without ASCVD

American Journal of Preventive Cardiology 2021 | Myers, K, et al.

Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia

Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia (IMPACT-FH)

Circulation: Genomic and Precision Medicine 2021 | Campbell-Salome, G, et al.

A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model

American Journal of Preventive Cardiology 2021 | McGowan, M, et al.

2020

Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry

The Journal of Pediatrics 2020 | de Ferranti, S, et al.

Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry

Journal of Clinical Lipidology 2020 | Gidding, SG, et al.

Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening Journal of Genetic Counseling 2020 | Schwiter, R, et al.

2021

Journal of Personalized Medicine 2021 | Jones, L, et al. 2022

Patient experiences align with the familial hypercholesterolemia global call to action

American Journal of Preventive Cardiology 2022 | Jones, L, et al.

Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication

Translational Behavioral Medicine 2022 | Campbell-Salome, G, et al.

Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Journal of American Medical Association Cardiology 2020 | Wilemon KW, Patel J, et al.

2019

Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data

The Lancet Digital Health 2019 | Myers KD, et al.

Effects of access to prescribed PCSK9 inhibitors on cardiovascular outcomes

Circulation: Cardiovascular Quality and Outcomes 2019 | Myers KD, Niloofar, F, et al.

Research Publications

(continued)

Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry

Atherosclerosis 2019 | Duell PB, et al.

Finding missed cases of familial hypercholesterolemia in health systems using machine learning

npj Digital Medicine 2019 | Banda JM, et al.

2018

Clinical Genetic Testing for Familial Hypercholesterolemia

Journal of the American College of Cardiology 2018 | Sturm AS, et al.

Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review of the Literature

Health Affairs 2018 | Roberts M, et al.

Familial hypercholesterolemia patient support groups and advocacy: A multinational perspective

Atherosclerosis 2018 | Payne J, et al.

ClinVar database of global familial hypercholesterolemia-associated DNA variants

Human Mutation 2018 | Iacocca MA, et al.

Familial hypercholesterolaemia patient–determined themes for community-engaged research Health Education Journal 2018 | DeAngelis, EJ, et al.

Is diet management helpful in familial hypercholesterolemia?

Current Opinion in Clinial Nutrition and Metabolic Care 2018 | Gidding, S

The Role of Registries and Genetic Databases in Familial Hypercholesterolemia

Current Opinion: Lipidology 2017 | Kindt I, et al.

Access to Non-Statin Lipid Lowering Therapies in Patients at High Risk of Atherosclerotic Cardiovascular Disease

Circulation: Cardiovascular Genetics 2017 | Knowles JW, et al.

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

Journal of American Medical Association 2017 Knowles JW, et al.

Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH patient registry

Atherosclerosis 2017 | Amrock SM, et al.

2016

US Physician Practices for Diagnosing Familial Hypercholesterolemia: Data from the CASCADE FH Registry

Journal of Clinical Lipidology 2016 | Ahmad ZS, et al.

Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH Registry

Circulation: Cardiovascular Genetics 2016 | deGoma, EM, et al.

Statins in Familial Hypercholesterolemia— Translating Evidence to Action

Journal of American College of Cardiology 2016 | Knowles JW, et al.

2015

Enough Evidence, Time to Act!

Circulation: Cardiovascular Genetics 2016 | Knowles JW, et al.

Diagnosis Familial Hypercholesterolemia in the United States: Results from the CASCADE FH Patient Registry

Journal of Clinical Lipidology 2015 | Ahmad ZS, et al.

Familial Hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association Guidelines: Myths, Oversimplification and Misinterpretation versus Facts

American Journal of Cardiology 2015 | Knowles JW, et al.

The Rationale and Design of the CASCADE FH Registry: Expert Analysis

Journal of American College of Cardiology 2015 | O’Brien EC, et al.

The Agenda for Familial Hypercholesterolemia A Scientific Statement From the America Heart Association American Heart Association 2015 | Gidding S

2014

Reducing the Burden of Disease and Death from Familial Hypercholesterolemia: A Call to Action

American Heart Journal 2014 | Knowles JW, et al.

Underutilization of Cascade Screening for Familial Hypercholesterolemia

Journal of Clinical Lipidology 2014 | Neal WA, et al.

Rationale and Design of the Familial Hypercholesterolemia Foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia Registry

American Heart Journal 2014 | O’Brien EC, et al.

Familial Hypercholesterolemia

In Rare Disease Database 2014. National Organization for Rare Disorders | Knowles JW, et al.

Research Abstracts

2024

Lipoprotein(a) and risk of cardiovascular disease events: an analysis in a large US national database

2024 | Will be presented at AHA

The Family Heart Foundation™ Flag, Identify, Network, Deliver— Familial Hypercholesterolemia (FIND-FH™) Program and Collaborative Learning Network (CLN): 18 Month Progress Report

2024 | Presented at NLA

Development of the Family Heart Foundation™ Flag, Identify, Network, Deliver—Familial Hypercholesterolemia (FIND-FH™) Implementation Toolkit 2024 | Presented at NLA

2023

Lipoprotein(a) Screening Practices in a Large US Healthcare Dataset 2023 | Presented at AHA

72% of High-Risk Hypercholesterolemia Patients Never Reach Below ACC/AHA Guideline LDL-C Thresholds 2023 | Presented at ACC

The Vast Majority of Hypercholesterolemia Patients Never Reach Below LDL-C Thresholds in the 2018 ACC/AHA Guideline 2023 | Presented at NLA

Higher Cardiovascular Event Rates for High-Risk Americans Who Do Not Meet 2018 Multidisciplinary Guideline on the Management Of Blood Cholesterol

2023 | Presented at AMCP

Higher Cardiovascular Event Rates for Americans Who Do Not Meet 2018 Multidisciplinary Guideline on the Management Of Blood Cholesterol Thresholds

2023 | Presented at NLA

2022

Using Healthcare Claims Data and Machine Learning to Identify Health Disparities for Individuals with Diagnosed and Undiagnosed Familial Hypercholesterolemia

2022 | Presented at AHA

Characterization of Children with Homozygous Familial Hypercholesterolemia from the CASCADE FH® Registry

2022 | Presented at AAP

Using Healthcare Claims Data and Machine Learning to Identify Health Disparities for Individuals with Diagnosed and Undiagnosed Familial Hypercholesterolemia.

2022 | Presented at AHA and WCIRDC

Diagnosis of Familial Hypercholesterolemia: A Work in Progress 2022 | Presented at ASCP

Real-World, Observational Study of Elevated Lp(a) and Cardiovascular Events

2022 | Presented at EAS

Characterization of Lp(a) Measurement In a Large U.S. Health Care Dataset

2023 | Presented at NLA and CMHC

Engaging Individuals with Familial Hypercholesterolemia and their Families to Design a Direct Contact Program (DCP) to Improve Cascade Testing Uptake

2022 | Presented at NSGC (with IMPACT FH)

Yield of a Familial Hypercholesterolemia Genetic Diagnosis After Electronic Health Record and Genomic Data Screening 2022 | Presented at AHA (with IMPACT FH)

2020

Implementation of Flag, Identify, Network, Deliver (FIND FH)

Machine Learning Algorithm: A Quality Improvement Initiative to Perform Targeted Screening for Familial Hypercholesterolemia within a Single Healthcare System

2020 | Presented at ASPC (With UPENN)

Acceptability and Feasibility of Novel Screening Models and Family Communication Methods for Familial Hypercholesterolemia

2020 | Presented at AHA (with IMPACT FH)

2019

Familial Hypercholesterolemia Patients Response to a Free Genetic Testing Offer

2019 | Presented at AHA and FH Global Summit

Validation of Flag, Identify, Network, Deliver: FIND FH® Using the Electronic Medical Record to Identify Familial Hypercholesterolemia within a Single Healthcare System 2019 | Presented at FH Global Summit

Implementation of Flag, Identify, Network, Deliver: FIND FH® Using the Electronic Medical Record to Identify Familial Hypercholesterolemia within a Single Healthcare System

2019 | Presented at FH Global Summit

Homozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH® Registry 2019 | Presented at NLA

A Complex Rearrangement in the LDLR Gene in a Patient with Familial Hypercholesterolemia and Severe Coronary Artery Disease 2019 | Presented at ACMG (with COLOR)

Cost-effectiveness of Screening and Management Strategies for Familial Hypercholesterolemia in the United States: an Update 2019 | Presented at ISPOR (with USC)

2017

Health Disparities among Adult Patients with Familial Hypercholesterolemia in the CASCADE FH™ Patient Registry

2017 | Presented at ACC

Improved Longitudinal LDL-C Goal Achievement Among Familial Hypercholesterolemia Patients in the CASCADE FH™ Patient Registry 2017 | Presented at AHA

Pediatric Familial Hypercholesterolemia: Children and Adolescents Enrolled in the CAscade SCreening for Awareness and DEtection FH Registry

2017 | Presented at NLA

2015

Initial Results from the CASCADE-FH Registry: CAscade SCreening for Awareness and Detection of Familial Hypercholesterolemia

2015 | Presented at ACC

Diagnosing Familial Hypercholesterolemia (FH) in the US: Results From the CASCADE FH Patient Registry

2015 | Presented at NLA

Lipoprotein(a) Research

Analysis

of Large U.S. Healthcare Dataset Shows Measurement of Lipoprotein(a) is Rare

The Family Heart Foundation completed an analysis of its large U.S. Family Heart Database™ demonstrating that lipoprotein(a) is rarely assessed, despite it being a common, independent risk factor for atherosclerotic cardiovascular disease (ASCVD). Of the 44 million adults for whom data was analyzed, only 1.1% had at least one Lp(a) measurement. The data was presented in a poster titled, “Lipoprotein(a) Screening Practices in a Large US Healthcare Dataset” at the American Heart Association Scientific Sessions in November, 2023.

“Elevated Lp(a) is a known risk factor for premature cardiovascular disease such as heart attacks and strokes, and it’s estimated to be present in 20% of the population. Yet, it appears that few people have their Lp(a) measured, and when it is measured, it is only for individuals with multiple cardiac risk factors. While the analysis provides great insights, more research is needed to understand barriers and facilitators to Lp(a) testing within the healthcare setting.” Mary P. McGowan, MD, former Chief Medical Officer, Family Heart Foundation and lead author of the study.

To determine how commonly Lp(a) was measured, data was analyzed using the Family

Heart Foundation’s large, real-world, national healthcare database which includes more than 300 million Americans; 44 million adults with sufficient laboratory and medical claims data from 2012 to 2021 were included in the analysis. Of those, Lp(a) was measured in only 1.1% (500,899/44,857,734) of adults, and 2.0% (218,331/10,658,820) of those with ASCVD. The data indicated that individuals who underwent Lp(a) testing had a median age of 60 years, were more frequently women (55%), and often had ASCVD (44%).

Lp(a) screening volume was very low from 2012 to 2018 and increased during 2019 to 2021. Furthermore, of the 41,976 health care providers who had patients with laboratory data in the database, 1.6% (687) ordered more than 50% of the Lp(a) tests.

Elevated levels of Lp(a) increase inflammation, plaque buildup inside the arteries, and appear to promote blood clotting. These attributes can contribute to blocking the flow of blood and oxygen to the heart or brain and result in a heart attack or stroke. Testing for Lp(a) requires a simple blood test, but it is not part of a standard lipid panel.

“The Family Heart Foundation has given me hope, hope for my family and other families affected by FH. Together, we will make a difference and save lives."

— Aletha M. Family Heart Ambassador

Everything that motivates us starts with you

Everything that motivates us starts with you

Everything that motivates us starts with you

Patients are at the center of all we do.

Patients are at the center of all we do.

Patients are at the center of we do.

Merck, we embrace the opportunity to engage with patients and include patient perspectives in our pursuit of better health outcomes.

At Merck, we embrace the opportunity to engage with patients and include patient perspectives in our pursuit of better health outcomes.

At Merck, we embrace the opportunity to engage with patients and include patient perspectives in our pursuit of better health outcomes.

Homozygous Familial

Hypercholesterolemia

in the U.S.

A new study from the Family Heart Foundation showed the diagnosis and treatment of homozygous familial hypercholesterolemia (HoFH) is delayed and often occurs only after a heart attack or early atherosclerotic cardiovascular disease (ASCVD). HoFH is a rare disease and is the most severe form of the common inherited genetic disorder called familial hypercholesterolemia (FH). HoFH leads to severely elevated low density lipoprotein cholesterol (LDL-C) from birth onward. While some with the highest LDL-C are diagnosed with HoFH in childhood, many others are missed, denying them the opportunity for timely initiation of aggressive lipid-lowering therapies (LLT) and resulting in premature cardiovascular disease. The new study was published online in the Journal of the American Heart Association (JAHA).

“This Family Heart Foundation study demonstrates missed opportunities for HoFH diagnosis across the lifespan, with many adults in the U.S. still undiagnosed, leading to very real consequences from early heart attacks or strokes,” said Mary P. McGowan, MD, former Chief Medical Officer, Family Heart Foundation, and co-author of the study. “We’ve found that health care providers often fail to follow the American Academy of Pediatrics and the National Institutes of Health recommendations for pediatric lipid screening, leaving children with HoFH undiagnosed. There is a need for clinicians to screen children and adults appropriately and to take action when LDL-C levels suggest HoFH. People living with HoFH deserve the benefit of all available LDL-C lowering treatments, most of which are underutilized.”

The current study, “Contemporary Homozygous Familial Hypercholesterolemia in the United States,” is the largest U.S. description of contemporarily treated patients with HoFH. The study examined the HoFH population in two proprietary Family Heart Foundation databases: CASCADE FH® Registry and the Family Heart Database™. This

comprehensive assessment of HoFH care in both databases indicates that increased lipid screening in childhood and adulthood is necessary to improve diagnosis, and that aggressive use of all available LLTs will be required to improve lipid management in this very high-risk population. Key findings show despite treatment with available therapies, most patients in the Registry still require further LLT to achieve their LDL-C goal and patients in the real-world Database are both under-diagnosed and under-treated.

Insights from the CASCADE FH Registry found that at the time of enrollment into the Registry, 78% of adults and 44% of children with HoFH already had documented ASCVD. Treatment with three to six LLTs in specialty lipid clinics, resulted in overall LDL-C reductions of 72% in adults and 61% in children from their untreated median baselines of 533 and 776 mg/dL, respectively. Despite this dramatic improvement, most had not yet reached recommended LDL-C levels. Because this study was completed prior to the approval of the newest HoFH-specific treatment, future follow-up is needed to reassess LDL-C goal attainment with the addition of this medication.

The analysis from the Family Heart Database of 81 million Americans found 277 individuals with characteristics strongly indicating HoFH, 84% of whom were under the age of 50 and 20% of whom were reported to have ASCVD. Despite a median LDL-C of 444 mg/dL, only 26% had an FH diagnosis. A full 40% were not on any lipid-lowering medications and 19% were on high-intensity statins alone. Less than 20% were on more aggressive therapies needed for adequate LDL-C management in this population. This large database is distinct from the CASCADE FH Registry and includes diagnostic, procedural, and prescription claims data, as well as laboratory information from 2012 to 2021.

“Continue to advocate for yourself, and if you can’t, the Family Heart community is there to help. I’ll talk to anybody. I’ll help because I’ve been there and none of us have to be there again.”

— Kristen G. Family Heart Ambassador

“If you or someone you love is living with HoFH, know that there is a community here for you. Know that a lot of the available literature doesn’t tell you everything there is to know about living with HoFH. There is every reason to be optimistic, and every opportunity to get involved and help to make a difference.”

— Allison J. Family Heart Ambassador Family Heart Board Member

“I finally found help after 50 years—an organization that talks to me about me and my HoFH. I have soldiers in my corner now.”

— Patricia Y. U.S. Army Retired Family Heart Ambassador

“It’s heartening to witness the organization’s work around improving how we understand and treat Lp(a) and familial hypercholesterolemia (FH), and I feel incredibly grateful to support its efforts as a Family Heart Ambassador. While I once felt hopeless about the future, these days, I feel optimistic—for myself, for my child, and for all people with elevated Lp(a).”

“I am grateful to the Family Heart Foundation for connecting me with educational resources to help me manage my high LDL-C and high Lp(a).”

— Gail T.

— Jenny W. Family Heart Ambassador

Family Heart Ambassador

Familial Hypercholesterolemia

Global Impact

In 1998, the World Health Organization (WHO) and several members of the international FH Community published the WHO Report on Familial Hypercholesterolemia (FH). This prescient document included 11 recommendations to address the large gaps in diagnosis and care of individuals with FH around the world. In the more than 20 years since its publication, only a few of these recommendations have been widely implemented on a country-bycountry basis and an entire generation of impacted individuals with FH has been lost to premature heart disease.

During the 2018 FH Global Summit, the Family Heart Foundation (formerly known as the FH Foundation) initiated a Global Call to Action to update the original recommendations and create an advocacy tool to drive FH awareness around the world and to implement the updated recommendations. We partnered with World Heart Federation (WHF) to convene the international FH Community of impacted

individuals, advocacy leaders, international associations, scientific experts, policymakers and the original authors of the 1998 report to collaborate together to reexamine the recommendations and update them to meet the needs of today’s FH population.

Two meetings were hosted by the Family Heart Foundation and WHF in Marina del Ray, California on October 3 and in Dubai, United Arab Emirates on December 6, 2018. This created a coalition of 40 countries and 90 stakeholders who provided their perspectives of FH from low-, middle-, and high-income regions. A set of eight global public policy recommendations covering awareness, advocacy, screening, diagnosis, treatment, research, registries, and cost/value were created.

The Global Call to Action was published in JAMA Cardiology in January 2020. The Family Heart Foundation is using this report to advocate with government and health policy leaders to prioritize FH as a public health concern.

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia

A Global Call to Action

Awareness: Awareness should be enhanced regarding the importance of severe hypercholesterolemia and FH as a global public health issue; awareness should be raised in a broad range with the general public, educational institutions (both public and medical), the general medical community, and health care delivery systems.

Advocacy: Establishment of country/region specific advocacy organizations, focused on the implementation of the recommendations herein, is of utmost importance. Organizations should be a partnership of patients, physicians, and other health care professionals needed for FH care. Governments and national institutes of health should be made aware of the existence of this health hazard.

Screening, Testing, and Diagnosis: Screening for FH should be performed according to country-specific conditions and guidelines. Screening, testing, and diagnosis may be based on cholesterol levels (with cutoff levels adapted to the country/target population) or positive genetic tests for an LDL cholesterol receptor function defect.

Treatment: Screening for FH should be performed according to country-specific conditions and guidelines. Screening, testing, and diagnosis may be based on cholesterol levels (with cutoff levels adapted to the country/target population) or positive genetic tests for an LDL cholesterol receptor function defect.

Severe and Homozygous FH: Create, as a special case, separate guidelines for severe and homozygous FH, defined as either the presence of LDL cholesterol level >400 mg/dL or a pathogenic gene variant in any of the FH-related genes on 2 different alleles.

Family-Based Care: Develop a family-based care plan with opportunities for patient involvement and shared decision-making over the continuum of the life span.

Registries: Fund national and international FH registries for research to quantify current practices and identify the gaps between guidelines and health care delivery, to publish outcome metrics for monitoring and standardizing care, identify areas for future resource deployment, dissemination and defining best practices, as well as facilitating FH awareness and screening.

Research: Conduct basic science, genetic, epidemiologic, clinical, and implementation science research to improve FH care.

Cost & Value: Understand value in FH care, both for the family and for society, including gained years of life expectancy, gained years of life without disability, and lost productivity.

Generous people like you make the life-saving work of the Family Heart Foundation possible.

The Family Heart Foundation is relentlessly committed to ending inherited heart disease and stroke. We believe those at high genetic risk for premature heart disease can live a full life if given accurate medical information and appropriate care.

Help us achieve our mission by donating today! Every gift and every donor counts.

Please make your charitable gift today. www.familyheart.org/donate We need your help. Commit to a monthly donation and make a difference.

Donate online or by mail

Make a tribute or memorial gift

Become a monthly donor

Family living with FH and high Lp(a)

Family Heart Community in Action

The Family Heart Foundation is a true partnership of individuals and families impacted by familial hypecholesterolemia (FH) and elevated lipoprotein(a) and the healthcare professionals who diagnose and treat them. Together, we are raising awareness of FH and elevated Lp(a), driving improved diagnosis, making sure individuals know their treatment options and opportunities for clinical trial research, and mobilizing to impact public policy.

The Family Heart Foundation’s approach to everything we do includes bringing together data, medical expertise, and the patient perspective to make meaningful change in the lives of people with inherited lipid disorders.

The reach and impact of the Family Heart Foundation’s Community in Action program can be felt all year long. Every day, the Family Heart Foundation answers questions from individuals with FH and elevated Lp(a) and their family members.

People call, email, and post on social media asking:

• Where can I find a specialist near me?

• What are my treatment options?

• Is cholesterol really bad for me?

• Isn’t it the statins that will kill me?

• What do experts say about what my LDL-C or Lp(a) level should be?

• Is lipoprotein apheresis available near me for my toddler who we just discovered has Homozygous FH?

• My insurance plan just denied my PCSK9 inhibitor prescription, can you help me make my case to my insurance plan and my employer for this treatment?

• My family members don’t want to face this diagnosis. What can I do?

• The doctor says it’s time to put my child on a statin, please help me feel good about this important step in our family’s journey.

The Family Heart Foundation is there for these individuals every day, connecting them with experts, educational materials, research opportunities, and most importantly, with each other for support. We know that people who are connected with the Family

Heart Foundation understand their condition better and are more aware of their treatment options. Our goal is that more informed and empowered individuals will achieve better outcomes for themselves, their families, and for the Family Heart Community as a whole.

Over the past 12 years, the Family Heart Community in Action Program has built an incredible network of trained volunteers — Family Heart Ambassadors— across the United States. These amazing individuals have stepped up to share their stories to raise awareness, to support their peers who are newly diagnosed, and to make sure the Family Heart Foundation continues to prioritize what is most important to the people we serve — individuals with FH and elevated Lp(a) and their families.

We are a “patient-driven” organization. Founded and led by people with FH and elevated Lp(a), everything we do is driven by our understanding of the needs and priorities of these individuals. Family Heart Ambassadors share their stories and obstacles. Their experiences have helped to illustrate the impact FH and high Lp(a) has on people’s lives, demonstrated the need for additional treatment options, and highlighted the frustration of not being able to access new treatments specifically developed and approved for people like them.

Thank you for being an important member of the Family Heart Community!

Help us build the FH & Lp(a) Community

Connect to the Family Heart Foundation and the resources we offer.

Invite the Family Heart Foundation to present with you at your workplace or in your local community.

Help raise awareness on social media.

Nominate someone else to be a Family Heart Ambassador!

"This was everything I needed that I didn’t even know I needed.”

— Tracy P, Family Heart Ambassador

2024 Family Heart Ambassador Training

In April 2024, we hosted our 11th annual Family Heart Ambassador Training. It was our first in-person Ambassador Training since the COVID pandemic.

This training convened over 35 new Family Heart Ambassadors which included members of our community affected by heterozygous familial hypercholesterolemia (HeFH), homozygous FH (HoFH), and/or high lipoprotein(a), Lp(a). For over a decade,

24

we have cultivated a robust group of over 225 Family Heart Ambassadors.

The Family Heart Foundation gives Ambassadors the necessary information, tools, and support to help raise awareness and educate the public and medical community of FH and Lp(a).

Interested in signing up? Visit FamilyHeart.org/ambassador.

Sign up in the spring!

People with FH and high Lp(a) are in a race against time – most do not even know it.

The Family Heart Foundation hosts a Race to Save More Hearts annually. Join people all across the United States to help us fight to save generations of families from heart disease and stroke. Individuals and teams will choose their own challenge event from running to walking, or just asking your

friends and family for support. The possibilities are limitless and only require your imagination and a “can do” attitude. Race in honor or in memory of a loved one, someone you know, or because you care about making a difference in the lives of others.

The Family Heart Foundation will cheer you on, give you a virtual high five, and provide the support to make your Race to Save More Hearts a success.

of Familial Hypercholesterolemia and Lipoprotein(a)

Lp(a) Awareness Day | March 24

The Family Heart Foundation established FH Awareness Day in 2012 and Lp(a) Awareness Day in 2022 to raise awareness of FH and Lp(a) and activate the community. Through national and local media, as well as social media engagement, we draw attention to these important inherited disorders and encourage everyone to join the movement.

Established in 2013

CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemiaa

The Family Heart Foundation (formerly the FH Foundation) established and maintains the CASCADE FH Registry. The Registry collects comprehensive longitudinal data to better understand outcomes of familial hypercholesterolemia diagnosis and treatment.

Principal Investigators

Zahid Ahmad, MD

Christie M. Ballantyne, MD

Seth J. Baum, MD

Jason Bensch, MD

Robert Block, MD, MPH

Julie M. Clary, MD, MBA

Sarah Clauss, MD

Marina Cuchel, MD, PhD

Sarah de Ferranti, MD, MPH

Caroline deRichemond, CRNP

P. Barton Duell, MD

Antonio B. Fernandez, MD

Robert D. Fishberg, MD

Anne Carol Goldberg, MD

John R. Guyton, MD

Linda C. Hemphill, MD

Kerrilynn Hennessey, MD

Lisa C. Hudgins, MD

John Kane, MD

Thomas G. Knickelbine, MD

Joshua W. Knowles, MD, PhD

Iftikhar J. Kullo, MD

John A. Larry, MD

MacRae F. Linton, MD

Gina G. Lundberg, MD

Seth S. Martin, MD, MHS

Jan McAlister, DNP

Stephen Meng, MD

Joanna Mitri, MD, MS

Patrick M. Moriarty, MD

Pamela B. Morris, MD

Marjan Mujib, MD

Amy L. Peterson, MD

Lee A. Pyles, MD

Geetha Raghuveer, MD, MPH

Paul Thompson, MD

Aaron Turkish, MD

Donald Wilson, MD

David Zidar, MD, PhD

The Family Heart Foundation gratefully acknowledges Regeneron for their financial support of the CASCADE FH Registry.

“Runs in the family”

is not a diagnosis.

If heart disease or stroke run in your family, a genetic cholesterol disorder may be the cause.

In 2023, the Family Heart Foundation led several awareness campaigns in conjunction with FH and Lp(a) Awareness Days. Media relations efforts included:

• Consumer, health, and wellness online and print outlets highlighting genetic conditions that increase the risk of early heart disease among Black Americans.

• Continuing the award-winning “Runs in the Family is Not a Diagnosis” campaign.

• Placing articles on the newly launched FIND Lp(a) program in publications like Becker’s Hospital Review.

• Consumer, health, and wellness publications featuring our Family Heart Ambassadors.

• A Satellite Media Tour (SMTs), timed to Lp(a) Awareness Day in March featuring a physician key opinion leader and a Family Heart

Ambassador who spoke to her own diagnosis journey.

• A six-week billboard campaign that covered Atlanta, Houston, Indianapolis, and the California Bay Area.

The media relations activities focused on increasing awareness about FH and elevated Lp(a) as potential causes of premature heart attacks and strokes. Results included:

• 252 million media impression

• 270,000+ views on YouTube ads

• 614 airings of the SMTs

• Billboards reaching populations of 6.38 million

Real family living with FH and high Lp(a)

CHOLESTEROL CONNECT

• Lipoprotein(a)

• LDL Cholesterol

• Care Navigation Free Screening

The Family Heart Foundation gratefully acknowledges Amgen for their sponsorship of Cholesterol Connect.

— Jos K. Family Heart Ambassador

— Eileen K. Family Heart Ambassador

GOAL Program

Getting On Appropriate Lipid management

In 2022, the Family Heart Foundation launched the Getting to GOAL (Getting On Appropriate Lipid management) Program in response to the findings from the PPPLLL (Patient, Payer, Practitioner Lipid Lowering Landscape) Analysis. This analysis identified significant shortcomings in the management of LDL-C in 38M high-risk Americans and data from PPPLLL was presented at 3 scientific meetings in 2023 – the American College of Cardiology (ACC), the Academy of Managed Care Pharmacy (AMCP), and the National Lipid Association (NLA). In brief, the PPPLLL analysis found that <30% of high-risk individuals have their LDL-C controlled, and even if a person achieved their LDL target, they remained below their target for a limited duration of time (< 6 months on average). Additionally, use of statins and other lipid-lowering agents (especially in combination with statins) was very limited and significant disparities in LDL-C control were identified by gender, race, income, and education.

The GOAL program was launched to engage all stakeholders (patients, payers, practitioners, and policy makers) with a comprehensive educational campaign to improve awareness, treatment, and control of LDL-C in high-risk Americans.

Patients:

A new patient-oriented video was released on February 14, 2023, and a companion website with many new tools and resources for patients was launched in early June. Additionally, a new patient tear pad on the importance of getting to the LDL Safe Zone was made available in December 2022 and has been promoted at major medical meetings throughout 2023 as well as online. We are in the process of updating the LDL Safe Zone website and a new, more interactive and engaging site will be lauched in September 2024 for Cholesterol Awareness Month. Stay tuned!

Payers:

The Family Heart Foundation held an educational session at the annual Academy of Managed Care Pharmacy (AMCP) Spring meeting in New Orleans, LA on April 16, 2024. Entitled, “From LDL-C to Lp(a): Opportunities to Reduce the Rising Tide of Cardiovascular Disease”, the session featured presentations by Family Heart Board member Dr. Keith Ferdinand and Dr. JaMasha Lacy, a community-based specialty pharmacist at Walgreens in New Orleans.

Additionally, an LDL-C focused webinar in conjunction with AMCP is planned for October 8 and another with America’s Health Insurance Plan (AHIP) is in the process of being scheduled before the end of 2024.

Finally, on September 9, 2024 the Family Heart Foundation launched a payer report card website which highlights the health plans and PBMs that are doing the best (and worst) job of controlling LDL-C in their members with atherosclerotic cardiovascular disease (ASCVD). This is part of our larger effort to hold all stakeholders accountable to deliver better results for highrisk patients!

Practitioners:

The Family Heart Foundation has undertaken a number of initiatives to raise awareness among

HCPs of the importance of prioritizing LDL-C control. First, we developed a new Family Heart booth for use at medical meetings in order to engage HCPs and highlight our various LDLfocused patient resources. This booth debuted at the 2023 American Society for Preventive Cardiology meeting in June, and we will be exhibiting at 5 more meetings in 2023 and another 6 in 2024.

For American Heart month in February 2024, the Family Heart Foundation released a comprehensive LDL-C focused slide kit, entitled “Opportunities to Reduce the Rising Tide of Cardiovascular Events Through Better LDL-C Management”. This comprehensive resource with over 50 slides was developed with significant input from our GOAL faculty, including Drs. Erin Michos, Payal Kohli, and Mary McGowan.

In November 2024 at the American Heart Association meeting, the Family Heart Foundation is planning to record a multi-specialty Peer Exchange Roundtable on improving LDL-C control in partnership with HCP Live. Faculty for this session will include Drs. Seth Baum, Erin Michos, Yehuda Handelsman, Lisa Maher, and Amy Peterson. Our 2023 HCP Live Peer Exchange generated over 10,000 views across the 14 episodes that we released in September 2023.

Additionally, we have partnered with Pri-Med on a series of in-person and virtual educational sessions focused on improving awareness,

treatment, and control of LDL-C. Five sessions are currently planned in 2024 to build on the strong momentum we established with the PriMed audience in 2023:

• Philiadelphia (August 23)

• Baltimore (October 16)

• Cardiology NOW Webinar (November 12)

• Primary Care NOW Webinar (December 12 and 13)

• PriMed South (Ft. Lauderdale-February 2025)

Policy Makers:

In October 2023, the Family Heart Foundation published a white paper which contains numerous policy recommendations to improve the awareness, treatment, and control of LDL-C. This will be distributed at key meetings in 2023 and 2024. Key advocacy priorities for the Foundation include restoration of LDL-C quality measures, measures by CMS, passage of the Maintaining Investment in New Innovation (MINI) Act, and adoption of common sense reforms for both prior authorization practices and PBMs.

The Family Heart Foundation gratefully acknowledges Amgen for their support of GOAL as a Foundation Level sponsor and Merck and Novartis for their support as Supporter Level sponsors.

GOAL PROGRAM 2024 Meetings

Past Meetings:

Feb. 7 – 9

Mar. 18 – 21

Apr. 6 – 8

International Stroke Conference 2024 Phoenix, AZ

EPI|Lifestyle Scientific Sessions 2024 Chicago, IL

ACC Scientific Sessions Atlanta, GA

Apr. 15 – 18

May 15 – 18

May 26 –29

Academy of Managed Care Pharmacy (AMCP) Annual Meeting New Orleans, LA

Vascular Discovery: From Genes to Medicine Scientific Sessions 2024 Chicago, IL

European Atherosclerosis Society (EAS) Lyon, France

May 26 – 30

International Heart Congress Paris France

May 30 –Jun. 2

Jul. 22 – 25

Aug. 2 – 4

Aug. 24

National Lipid Association Scientific Sessions Las Vegas, NV

BCVS Scientific Sessions 2024 Chicago, IL

American Society for Preventive Cardiology Meetings Salt Lake City, UT

Pri-Med Philadelphia (August 23, 2024) Philadelphia, PA

Upcoming Meetings:

Sept. 24 – 28

Sept. 27 – Oct 1

Oct. 8

Family Medicine Experience (FMX) Meeting Phoenix, AZ

American Academy of Pediatrics Annual Meeting Orlando, FL

Academy of Managed Care Pharmacy (AMCP) webinar

Oct. 8 – 11

Oct. 16

Society to Improve Diagnosis of Medicine Cleveland, OH

Pri-Med Baltimore Baltimore, MD

Oct. 16 – 19

Oct. 27 – 30

Nov. 12

Annual Cardiometabolic Congress Boston, MA

American Public Health Association Annual Meeting Orlando, FL

Pri-Med Cardiology NOW webinar

HCP Live Peer Exchange Taping Chicago, IL Nov. 15

Nov. 16 – 24

AHA Scientific Sessions Chicago, IL

Dec. 5

America's Health Insurance Plans (AHIP) webinar

12

Pri-Med Primary Care webinar

Do more than “Know Your Numbers.”

Don’t stop until you reach the LDL Safe Zone.

STEP 1 STEP 2 STEP 3 STEP 4

Understand the role of cholesterol

Understand your cholesterol levels

Journey to the LDL Safe Zone

Understand if your LDL cholesterol level is genetic

Make necessary changes to reach you LDL cholesterol goal

Heart disease is still the leading cause of death for adults in the United States, but there are ways to know your risk and take action. One of the most effective ways for you to lower your risk is lowering your low-density lipoprotein cholesterol (LDL). Seven out of 10 people at high-risk for cardiovascular disease have LDL above recommended levels.

We have decades of research showing high LDL cholesterol (the “bad” cholesterol) is a major risk factor for cardiovascular disease. There are medical guidelines that clearly outline recommended LDL levels and when and how to get there.

Research shows that living with lower LDL for longer is one of the best things you can do to reduce your risk for heart disease and stroke. At the Family Heart Foundation, we call that getting to the Safe Zone.

“The

FH community is my FH Family; a beautiful network of others just like me who understand what it's like to live with this disorder who support each other. I found my people.”

—

Lara C. Family Heart Ambassador

"The Family Heart Foundation is an invaluable resource for those who have been recently diagnosed with FH and those of us who have lived with the diagnosis for years."

— Erin P, Family Heart Ambassador

“I don't want to lose anyone else to heart disease, so I have made it my personal mission to bring awareness about FH to everyone I know.”

— Ora W.

Family Heart Ambassador

“Thanks to the Family Heart Foundation I have access to current information, research and one on one support which allows me to face my diagnosis of high Lp(a) with knowledge, not fear.”

— Abby D. Family Heart Ambassador

“Because of my experience with my dad, I knew my LDL level of 550 mg/dL was not normal.”

—

Shubbham D. Family Heart Ambassador

v Family Heart Foundation™

Patient, Practitioner, and Payer Lipid Lowering Landscape

Identifying barriers to achieving LDL cholesterol goals

Real-world data from the Family Heart Database™ in >38 million Americans at high risk of heart disease show:

72% of high risk patients never reach recommended LDL cholesterol goal.

Patients who do reach their LDL cholesterol goal, usually remain controlled for an average of <6 months at a time

80%

of clinicians NEVER prescribed combination lipid lowering therapy despite guideline recommendations

more total CV events Patients who consistently do not reach goal have than patients who are at goal 70% of the time

Approximately 1/3

of high-risk patients received NO lipid lowering therapy

49%

The quantitative and qualitative insights from the PPPLLL Analysis have informed the Family Heart Foundation’s GOAL Program.

Katherine Wilemon, Diane MacDougall, Mary McGowan, MD. The Vast Majority of Hypercholesterolemia Patients Never Reach Below LDL-C Thresholds in the 2018 ACC/AHA Guideline. Poster presented at: NLA; June 2, 2023; Atlanta, GA

"When I found a name for the condition, I felt known. When I found the FH community, I felt empowered. Together we can make a difference."

— Liz T. Family Heart Ambassador

“While

being part of the FH Community has benefited me, what I’m excited about is how it benefits my daughter. There is a better future in store.”

— Michael S. Family Heart Ambassador

Saving generations of families from heart disease through timely identification and improved care of FH and elevated Lp(a).

The FIND Method

FLAG

Family Heart Foundation partners with health systems to search electronic health records for clues indicating FH or elevated Lp(a) using a machine learning model.

NETWORK

Individuals are offered Family Heart Foundation support including education, community connection, and care navigation.

Flag, Identify, Network, Deliver™ Initiative

The innovative Flag, Identify, Network, Deliver Initiative is designed to establish a standard system for screening, identifying, diagnosing, supporting, and delivering optimal care to patients with elevated lipoprotein(a), Lp(a), and familial hypercholesterolemia (FH). The program utilizes evidence based scientific approaches to enhance the process toward achieving desired outcomes. The approaches and tools utilized include:

• Machine Learning Models

• Implementation Science

• Quality and Process Improvement

• Education and Awareness

• Collaborative Learning

IDENTIFY

Individuals flagged as probable FH or elevated Lp(a) are identified, evaluated, and diagnosed.

DELIVER

Individuals, together with their healthcare team, begin actively managing their LDL cholesterol and other cardiovascular risk factors.

Find individuals with FH or elevated Lp(a)

THE MACHINE LEARNING MODEL

The Family Heart Foundation created the FIND FH® machine learning model. This algorithm analyzes Electronic Health Record (EHR) data in a HIPAA compliant way to identify individuals at high risk for having familial hypercholesterolemia.

The FIND FH model was developed using over 350 variables, including diagnosis codes, procedure codes, prescription codes, lab values, gender, and age. The model was trained using data from over 221 million Americans (children and adults) with or at risk for cardiovascular disease in the Family Heart Database.

Building on the success of the FIND FH model, the FIND Lp(a) model will be created and trained using an updated Family Heart Database.

Model output allows providers to focus on undiagnosed individuals who need further evaluation to determine if they have FH.

FIND FH Today ACCOMPLISHMENTS TO DATE

• Interim performance metrics in FIND FH show improved FH assessments and a steady increase in diagnosis rates.

• A total of 1.8 M medical records across the 5 learning network sites were evaluated by the FIND FH machine learning model and 3720 of those records were flagged as high risk for FH.

• A clinical review of 31% of the flagged highrisk records was completed; 48% of those records were deemed eligible for further clinical follow-up.

• Patient outreach and clinical evaluation has been completed in 14% of eligible patients; an FH diagnosis was established in 78% of these patients and an additional 9% represented patients without FH but in need of CV risk reduction treatment.

• Developed and refined record review and assessment protocols to ensure outreach efforts target patients most likely to have FH.

• Refined patient outreach procedures to improve patient acceptance of clinical evaluation.

CURRENTLY UNDERWAY

• Clinical follow up: More than 800 individual charts have been reviewed to date.

• New diagnosis: 230 patients have been newly diagnosed with FH through the FIND FH program.

FIND FH Publications

POSTER PRESENTATIONS

Development of the Family Heart Foundation Flag, Identify, Network, Deliver — Familial Hypercholesterolemia (FIND FH) Implementation Toolkit

The Family Heart Foundation Flag, Identify, Network, Deliver — Familial Hypercholesterolemia (FIND-FH) Program and Collaborative Learning Network (CLN):18 Month Progress Report

ABSTRACTS

Khera A. et. al. (2023) Electronic Health Record-Integrated Platform for Patients with Severe Hypercholesterolemia and Familial Hypercholesterolemia Reveals Opportunities for Quality Improvement in a Large Healthcare System

Khera et. al. (2024) Performance of the FIND-FH Machine Learning Algorithm for the Identification of Individuals with Suspected Familial Hypercholesterolemia

FIND Lp(a)

On September 23, 2024, the Family Heart Foundation, supported by funding from Novartis, launched the FIND Lp(a)™ program to accelerate the adoption of lipoprotein(a) screening and appropriate management in patients with cardiovascular disease, including those who traditionally are under-represented in healthcare. The program’s learnings facilitate the creation

PARTICIPATING HEALTH SYSTEMS' ARTICLES BASED ON FIND FH

Sperling L., Eapen D., et al. American Journal of Preventive Cardiology (2024.) Primary care clinician engagement in implementing a machine-learning algorithm for targeted screening of familial hypercholesterolemia.

McGowan M. et al. (2024) Coproduction of a novel outreach approach for identification of familial hypercholesterolemia. BMJ Journal. https://ebm.bmj.com/content/29/Suppl_1/A36.2

Eapen D. et al. (2024) The Name of the Game: Implications of Diagnosis Through Machine Learning for Familial Hypercholesterolemia

Eapen D. et al (2024) Primary care clinician engagement in implementing a machine-learning algorithm for targeted screening of familial hypercholesterolemia

of sustainable strategies for addressing elevated Lp(a) and the development of best practices and tools, which will be made widely available to other health systems.

FIND Lp(a) Today

ACCOMPLISHMENTS TO DATE

• Executed partnership with five health systems.

• Conducted Lp(a) testing barriers and facilitators research.

• Involved Family Heart Ambassadors to provide unique patient perspectives.

• Completed first learning sessions with all participating sites in attendance.

• Created FIND Lp(a) machine learning model.

• Tested and initially validated the machine learning model using retrospective data from the Family Heart Database.

Additional partners are being recruited Individuals living with FH

Looking for more information about joining our network of FIND programs? Contact Shani Bardach sb@familyheart.org

• Health Systems have begun submitting their data for the machine learning model application.

The FIND Lp(a) program continues to grow, with additional Health Systems indicating interest. Patient outreach is anticipated before the end of the year. FIND Lp(a) promises to be a successful program significantly leading to improved health outcomes for patients with elevated Lp(a).

Additional partners are being recruited Individuals living with

“It wasn't until the FIND FH program flagged my record and reached out to me that I realized that what I was experiencing was familial hypercholesterolemia. It was quite special because it was perhaps the only time in my life when medicine and healthcare found me instead of vice versa.”

— Daniel H. Family Heart Ambassador

FIND Sponsors:

FIND FH Partners

FIND Lp(a) Partners

Family Heart Foundation LEAD Leveraging Evidence And Data For Pediatric Cholesterol Screening Initiative

The Family Heart Foundation aims to improve health outcomes for individuals and families at highest risk of primary and secondary atherosclerotic cardiovascular disease (ASCVD) due to genetic drivers of ASCVD risk, including familial hypercholesterolemia (FH), elevated lipoprotein(a), also known as Lp(a), and polygenic lipid disorders. These patients tend to be younger, with earlier and more aggressive onset of ASCVD than the general population. For this reason, it is especially urgent to diagnose inherited lipid disorders and to achieve LDL-C treatment goals early in life. To date, most of these patients remain far from goal and at risk for primary or secondary ASCVD events.

The Leveraging Evidence And Data (LEAD) for Pediatric Cholesterol Screening Program will leverage the Family Heart Foundation’s expertise, real-world research, relationships with experts in the field, and community partnerships to develop a consensus document and publication on the role of pediatric screening of cholesterol to identify familial hypercholesterol-

LEAD for Pediatric Cholesterol Screening Sposnor:

emia as a prototype for precision public health in the United States. In the U.S. healthcare is fragmented and childhood represents a distinct window of opportunity to identify children regardless of race, ethnicity, and socioeconomic status.

The LEAD Initiative for Pediatric Screening will implement a strategy for championing routine pediatric lipid screening, as currently recommended in the NHLBI, AHA, and AAP guidelines, to detect children and adolescents with FH and initiate treatment, thereby preventing premature disease and mortality due to ASCVD.

We will build on relationships the Family Heart Foundation has developed over the past 12 years with health systems, healthcare professionals, the patient community, and other partners in studying the impact of failing to implement guidelines and the lifesaving potential when childhood screening is systematically implemented.

“Reece’s diagnosis changed everything for our family. It might have saved all our lives.”

— Jessica F. Family Heart Ambassador

"I think it's really important for people to understand that the earlier FH is caught, the more easily someone can make it a part of their life. It made it less of a disturbance and more a seamless and natural part of my life."

— Amelia S. Family Heart Ambassador

“I am grateful for my familial hypercholesterolemia diagnosis. It gave what I have a name, not just high cholesterol. The diagnosis opened the door to new medicines, doctors, and a better way to manage my condition."

"The Family Heart Foundation helped me find the right specialist to manage my children's high risk for heart disease."

— Miranda C, Family Heart Ambassador

“Living with FH has been more than a medical journey; it is a silent battle often misunderstood, yet it has taught me strength and the value of understanding health. How does someone who looks petite, eats healthy, and exercises have high LDL? This is the question I get asked all the time."

— Chantelle B. Family Heart Ambassador

— Julie Family Heart Ambassador

Family Heart Foundation Care Navigation Center

If you have a personal or family history of high cholesterol, high lipoprotein(a), heart disease, or stroke, we are here to help. Taking steps to lower your LDL cholesterol to the Safe Zone can help you live a longer and healthier life .

At the Family Heart Foundation Care Navigation Center we are ready to answer your questions and support you along your healthcare journey – all at no cost to you. No matter where you are on your journey, we can give you the knowledge and tools you need to protect yourself from heart disease and stroke.

How we can help

Understand your cholesterol results

Find a specialist

Understand your diagnosis

Learn about treatment options

Connect with others

Navigate health insurance

Get tips for a heart-healthy lifestyle

Learn about clinical trials

Share information with family members

Get free tools & resources to help you

“The

— Rhiannon E. Family Heart Ambassador

2024 Family Heart Global Summit Speaker Bios

Christie M. Ballantyne, MD

Professor

Director of Center for Cardiometabolic Disease Prevention

Chief, Cardiovascular Research

Baylor College of Medicine

Scientific Advisor

Family Heart Foundation

Christie M. Ballantyne, MD, is an internationally renowned expert on lipids, atherosclerosis, and heart disease prevention. He is the Chief of Cardiovascular Research and the Director of Cardiometabolic Disease Prevention at Baylor College of Medicine.

Dr. Ballantyne’s research in the prevention of heart disease led him to become an established investigator for the American Heart Association. Since 1988, Dr. Ballantyne has received continuous funding from the National Institutes of Health to support his basic research of leukocyte-endothelial interactions, translational biomarkers and clinical trials.

Clarivate Web of Science named Dr. Ballantyne as a “Highly Cited Researcher” from 2017 to 2022, being in the top 1% of the most-cited investigators. This distinction is based on his 800-plus journal publications in the areas of atherosclerosis, lipids and inflammation. His research has led to the U.S. Food and Drug Administration’s approval of two biomarkers for cardiovascular risk prediction, and he has played a prominent role in the development and approval of new lipid-lowering therapies.

Dr. Ballantyne’s many professional accomplishments include being elected Fellow of the American Association for the Advancement of Science, the American Society of Clinical Investigation, and the Association of American Physicians. He serves on the Editorial Board of Circulation and the Journal of the American College of Cardiology, and in 2012 he received the Distinguished Scientist Award from the American College of Cardiology.

Seth Baum, MD Chief Medical Officer

Flourish

Research

Vice Chairman of the Board

Family Heart Foundation

Dr. Seth J. Baum, a graduate of Columbia College and Columbia College of Physicians and Surgeons, completed training in Internal Medicine, Cardiology, Interventional Cardiology, and Electrophysiology. He has directed and founded multiple Cardiac Catheterization and Electrophysiology laboratories. Dr. Baum has worked extensively in Integrative Cardiology, directing the Boca Raton division of Harvard’s Mind/Body Medicine Institute. Dr. Baum is a fellow of the American College of Cardiology, the American Heart Association, the American College of Preventive Medicine, the National Lipid Association, and the American Society for Preventive Cardiology. He is a Founding Physician/Scientist Member of the Society for Cardiovascular CT and is board certified in Cardiovascular CT. Dr. Baum served as treasurer of the International Society for the Study of Fatty Acids and Lipids. He founded and directs the Women’s Preventive Cardiology program at Boca Raton Regional Hospital. He is the President of the American Society for Preventive Cardiology (ASPC). Annually, Dr. Baum chairs the ASPC’s Conference on CVD Prevention.

Dr. Baum is the Secretary/Treasurer of the Board of Directors of the Family Heart Foundation. He sits on the American Heart Association’s Council for Epidemiology and Prevention as well as its Leadership committee, the Interdisciplinary Council for Prevention, and the Prevention Science Committee. He has written numerous peer reviewed papers as well as two books, The Total Guide to a Healthy Heart, and Age Strong, Live Long; Lessons from my Patients. In 2013 he was awarded Cleveland Heart Lab’s “Heart Award” for lifelong dedication to Preventive Medicine. Dr. Baum is the Founder and Chief Medical Officer of Excel Medical Clinical Trials, LLC, a consortium of clinicians dedicated to the safe and professional conduct of high-level scientific trials. He has served as Principal Investigator in over 100 clinical trials covering a broad band of disease states. Since 2022 he has been the Chief Scientific Officer for Flourish Research, a leading national clinical research company. Clinical Affiliate Professor of Medicine at FAU Medical School, Dr. Baum has a practice in Boca Raton, Florida that is devoted solely to Clinical Lipidology - he is board certified by the American Board of Clinical Lipidology - and Cardiovascular Disease Prevention. Dr. Baum also founded and directs the only lipoprotein apheresis program in southeast Florida. He lectures both nationally and internationally, emphasizing Familial Hypercholesterolemia, ASCVD prevention, lipid disorders and evolving therapies, Integrative Cardiology, sex distinctions in CVD, and omega-3 fatty acids.

Harpreet

S. Bhatia, MD, MAS

Assistant Professor of Medicine

Associate Program Director

Cardiovascular Diseases Fellowship

Division of Cardiovascular Medicine

University of San Diego, California

Dr. Bhatia is a Preventive Cardiologist and Assistant Professor of Medicine at the University of California, San Diego. His clinical and research interests both center around the prevention of cardiovascular disease. His research is primarily in cardiovascular epidemiology, with a focus on lipids, particularly Lipoprotein(a), and coronary artery calcium scoring.

Speakers

Michael S. Brown, MD, MAS

Regental Professor

Molecular Genetics and Internal Medicine

Paul J Thomas Chair in Medicine

The W.A (Monty) Moncrief Distinguished Chair in Cholesterol and Arteriosclerosis Research

University of Texas Southwestern Medical Center

Nobel Laureate in Physiology or Medicine

Michael S. Brown received a B.A. degree in Chemistry in 1962 and an M.D. degree in1966 from the University of Pennsylvania. He was an intern and resident at the Massachusetts General Hospital, and a postdoctoral fellow with Dr. Earl Stadtman at the National Institutes of Health.

In 1971, he came to UT Southwestern where he rose through the ranks to become a professor in 1976. He is currently Paul J. Thomas Professor of Molecular Genetics and Director of the Jonsson Center for Molecular Genetics at UT Southwestern. Dr. Brown and his long-time colleague, Dr. Joseph L. Goldstein, together discovered the low-density lipoprotein (LDL) receptor, which controls the level of cholesterol in blood and in cells. They showed that mutations in this receptor cause Familial Hypercholesterolemia, a disorder that leads to premature heart attacks in one out of every 500 people in most populations. They have received many awards for this work, including the U.S. National Medal of Science and the Nobel Prize for Medicine or Physiology.

Nihar Desai, MD, MPH

Associate Professor of Medicine and Associate Chief

Section of Cardiovascular Medicine

Yale University School of Medicine Investigator

Center for Outcomes Research and Evaluation

Executive Director for Value Innovation

Yale New Haven Health System Heart and Vascular Center

Dr. Desai’s interests focus on cardiovascular health services and comparative effectiveness research, examining patterns of care, identifying opportunities to improve clinical outcomes, and evaluating the impact of novel care delivery systems on cost and quality. In addition, he serves as a clinical consultant on the CMS acute myocardial infarction, heart failure, and coronary artery bypass graft surgery readmission and mortality measures. He graduated with highest honors from Lehigh University before completing an internship in the Clinton White House. He then attended the University of Connecticut School of Medicine where he received his Doctorate in Medicine and the Harvard School of Public Health where he received his Master’s in Public Health. Dr. Desai completed his residency training in Internal Medicine as well as his clinical fellowship in Cardiovascular Medicine at Brigham and Women’s Hospital and Harvard Medical School. He then completed a research fellowship at the TIMI Study Group with Dr. Eugene Braunwald. His scholarly work has been published in New England Journal of Medicine, Journal of the American Medical Association, Circulation, and the Journal of the American College of Cardiology.

Speakers

Hans Hammers, MD, PhD

Professor of Medicine at UT Southwestern

Individual Living with FH

FIND FH flagged individual

Dr. Hammers is a Professor of Medicine at UT Southwestern. He is a medical oncologist with a focus on immunotherapies in kidney cancer. He is a board member of a leading kidney cancer patient advocacy organization.

Keith C. Ferdinand, MD, FACC, FAHA, FNLA, FASCP

Professor of

Medicine

Gerald S. Berenson Endowed Chair in Preventive Cardiology

Tulane University School of Medicine

New Orleans, LA

Board Member

Family Heart Foundation

Dr. Ferdinand is Professor of Medicine at the Tulane University School of Medicine. He is board-certified in internal medicine and cardiovascular disease, certified in the subspecialty of nuclear cardiology, and a specialist in clinical hypertension.

Dr. Ferdinand is a member of the Association of University Cardiologists, past Chair of the National Forum for Heart Disease and Stroke Prevention and prior Chief Science Officer and chair of the Association of Black Cardiologists (ABC). He is presently on the board of the Partnership to Advance Cardiovascular Health, National Lipid Association, and the American Society for Preventive Cardiology.

He has conducted numerous trials in hypertension lipids, cardiometabolic risk, and cardiovascular disease especially in racial/ethnic minorities, and lectures nationally and internationally.

Furthermore, as the president of Healthy Heart Community Prevention Project (HHCPP) 501c3 non-profit health organization in New Orleans, Dr. Ferdinand has offered community interventions with faith and community.

In 2004, Dr. Ferdinand received the Louis B. Russell, Jr. Memorial Award of the American Heart Association. Other awards include the Congressional Black Caucus Health Trust for journalism, the Charles Drew award for medical excellence from the National Minority Quality Foundation, the Wenger Award for Medical Leadership by WomenHeart and ABC Spirit of the Heart Distinguished Leadership Award and in the 2019 Xavier University Champion Award for health equity and AHA 2019 James B. Herrick Award for Outstanding Achievement in Clinical Cardiology. He received a 2021 and again in 2022 Health Care Heroes honor for health care professionals in the New Orleans area. Dr. Ferdinand was honored as a 2023

Living Legend Honoree by the Center for African and African American Studies at Southern University at New Orleans.

Jonathan N. Flyer, MD

Associate Professor of Pediatrics

University of Vermont (UVM)

Division Chief of Pediatric Cardiology

University of Vermont Health Network

Dr. Flyer completed his general pediatric training and chief residency at Yale-New Haven Hospital, followed by pediatric cardiology fellowship at New York-Presbyterian Hospital where he was named the Welton Gersony Research Fellow. He is a Fellow of the American College of Cardiology and the American Academy of Pediatrics, and president of the New England Congenital Cardiology Research Foundation. He is a grant funded principal investigator of a multicenter clinical registry to study medical management of severe bicuspid aortopathy. Since 2017, he has led the UVM pediatric cardiology population healthcare strategy to improve compliance with national guidelines for routine lipid screening through innovative subspecialty implementation of point-of-care testing, which is now expanding to health network primary care practices. In addition to patient care and clinical research, he is committed to innovative teaching and mentorship, and is recognized as an Expert Teacher by the Teaching Academy at the UVM College of Medicine. He happily resides in Vermont with his family.

Thomáš Freiberger, MD

Professor of Medical Immunology

Director of Molecular Genetics Laboratory

Centre for Cardiovascular Surgery and Transplantation (CCVST),

Principal Investigator at the Medical Faculty

Masaryk Universit, Czech Republic

Clinical Geneticist

Prenatal Diagnosis Centre

Dr. Freiberger’s research is focused on the genetic underpinnings of primary immunodeficiencies and lipid metabolism disorders. His work emphasizes the molecular analysis of sequence variants to establish their functional significance and their association with disease. Since 1998, he has dedicated much of his research to familial hypercholesterolemia (FH), inspired by his encounter with Professor Roger Williams, a pioneer of the US and International MedPed (Make early diagnosis to Prevent early deaths) project.

As the founder of the Czech MedPed initiative, Dr. Freiberger has stimulated the establishing a nationwide network of 66 lipid centres, registering over 10,000 FH patients in the past 25 years. This project is conducted under the auspices of the Czech Atherosclerosis Society, where he serves as an Executive Committee member. He is actively working towards implementing a national universal FH screening program for children in the Czech Republic.

He is also a member of the Executive Committee of the European Atherosclerosis Society driven FH Studies Collaboration, which is aiming more deeply to understand the contemporary FH burden, the HoFH International Clinical Collaboration Steering Committee, and the Executive Committee of the Clinical Genome Resource (ClinGen) FH Expert Panel, making efforts to provide an evidence-based interpretation of FH-associated genetic variants’ clinical importance.

In addition to his research and clinical duties, Dr. Freiberger supervises postgraduate students, has led numerous research grants, and has authored multiple scientific papers in peer-reviewed journals. He is married and has two daughters.

Joeseph L Goldstein, MD

Regental Professor

Molecular Genetics and Internal Medicine

Julie and Louis A. Beecherl, Jr. Distinguished Chair

Biomedical Research

Paul J. Thomas Chair in Medicine

University of Texas Southwestern Medical Center

Nobel Laureate in Physiology or Medicine

Joseph L. Goldstein, M.D. is Chair, Department of Molecular Genetics, UT Southwestern Medical Center and holds the Paul J. Thomas Chair in Medicine. In 1985, he was named Regental Professor of the University of Texas.

Dr. Goldstein and his colleague, Michael S. Brown, discovered the low density lipoprotein (LDL) receptor and worked out how these receptors control cholesterol homeostasis. At the basic level, this work opened the field of receptor-mediated endocytosis, and at the clinical level It helped lay the conceptual groundwork for development of drugs called statins that lower blood LDL-cholesterol and prevent heart attacks. Drs. Goldstein and Brown shared many awards for this work, including the Lasker Award in Basic Medical Research (1985), Nobel Prize in Physiology or Medicine (1985), and National Medal of Science (1988).

In recent work, Drs. Goldstein and Brown discovered the SREBP family of transcription factors and showed how these membrane-bound molecules control the synthesis of cholesterol and fatty acids through a newly described process of Regulated Intramembrane Proteolysis. For this work, Drs. Brown and Goldstein received the Albany Medical Center Prize in Medicine and Biomedical Research (2003). Dr. Goldstein is currently Chair of the Albert Lasker Medical Research Awards Jury. He is a member of the Boards of Trustees of the Howard Hughes Medical Institute and The Rockefeller University and the Board of Directors of Regeneron Pharmaceuticals, Inc. He also serves on the Scientific Advisory Boards of Memorial Sloan-Kettering Cancer Center and the Broad Institute and is a member of the US National Academy of Sciences and a Foreign Member of the Royal Society.

Treva Grey

Individual living with FH

Treva Gray is an individual both living with familial hypercholesterolemia (FH) while having two children born with the same disorder. In 1964, at the age of 26, Treva found herself freshly divorced with two small children (ages 2 years and 6 months) to raise thinking they were healthy. A few months later Xanthomas (large bright orange bumps) began to appear on both children and after seeing numerous doctors she discovered they both had a rare disorder called homozygous familial hypercholesterolemia. Furthermore, the disease was hereditary, and she also was diagnosed with a form of it called heterozygous familial hypercholesterolemia. All that time no one in her family had any known heart issues. With no treatment available at the time (in the 1960’s), she was devastated to learn nothing could be done. About a year later, she was contacted by a doctor from the NIH in Bethesda, Maryland and asked to bring her family to participate in clinical trials to help discover possible treatments.

Many trials were tested with limited success. Her son did not respond well to the trials and passed away at the age of 14 from open-heart surgery, however, her daughter did much better with the treatments and is still alive today. There is always hope! Treva is excited to tell her story and struggles in hopes of helping other families.

Martha Gulati, MD, MS President

American Society for Preventive Cardiology Professor of Cardiology

Smidt Heart Institute at Cedars Sinai, Los Angeles Director of Prevention and Associate Director

Barbra Streisand Women’s Heart Center

Dr. Gulati holds the Anita Dann Friedman Endowed Chair in Women’s Cardiovascular Medicine and Research. She was formerly the inaugural Chief of Cardiology at the University of Arizona. She is the author of the best-seller, “Saving Women’s Hearts”. She served as the chair of the national chest pain guidelines from the American Heart Association and the American College of Cardiology, that were released in 2021. She also served as editor-in-chief of CardioSmart, the patient education arm of the American College of Cardiology.

Her exceptional commitment to the study of women and cardiac diseases has won her numerous awards and distinctions, including being named by Crain’s Chicago Business as one of Chicago’s Top 40 under 40. In 2011, she received the first CREDO (Coalition to Reduce Racial and Ethnic Disparities in Cardiovascular Outcomes) Award from the American College of Cardiology that was given to honor her contributions to improve cardiovascular healthcare of women patients. In 2012, she was awarded the National Red Dress Award for her efforts in raising awareness of heart disease in women and advancing research in this field. In 2019, she was chosen as the most influential woman in Arizona and received the 2019 American College of Cardiology’s Bernadine Healy Award for her leadership and accomplishment in the field of cardiovascular disease in women. In 2023, she was awarded the Arthur Agatston Award in Cardiovascular Disease prevention from the Society of Cardiovascular Computed Tomography (SCCT).

She is the principal investigator of the St. James Women Take Heart Project, a study that examined cardiac risk factors in women, and set standards for women’s fitness levels and heart rate response to exercise. She is the site PI and coinvestigator of the WARRIOR (Women’s IschemiA TRial to Reduce Events In Non-ObstRuctive CAD) trial that is funded by the Department of Defense. She also is a co-investigator on the Women Ischemic Syndrome Evaluation (WISE) study and previously served as a co-investigator on the Women’s Health Initiative (WHI). She has published articles in peer-reviewed publications, including The New England Journal of Medicine, Circulation, and Journal of the American Medical Association (JAMA). She has also been featured on Oprah.

Dr. Gulati is Canadian and completed medical school at the University of Toronto, Canada. She went on to complete her internship, residency and cardiology fellowship at the University of Chicago. She received a Master’s in Science at the University of Chicago and is a fellow of the American College of Cardiology, the American Heart Association, the American Society for Preventive Cardiology & the European Society of Cardiology. She is board certified in cardiovascular disease.

Valerie Harrell

Individual living with HoFH

Valerie Harrell is an individual who has been living with the rare disorder of hypercholesterolemia all her life. She was born in the 1960’s, along with a younger brother, when treatments for this disease did not exist. As very young children they both began to exhibit early signs of the disease in the form of bright orange plaque or bumps on the pressure points of their bodies. By the time she was five and her brother was 2, her mother was married, divorced and re-married. After visiting many doctors in the last few years about the bumps, they discovered that both children were homozygous or had two recessive genes and probably would not respond well to treatments. Their cholesterol numbers at this time were in the 1000’s and there was no hope. Then the family was contacted by a doctor and asked to participate in clinical trials at the NIH in Bethesda, Maryland. This would require living in the facility for months on end while testing was tried. While Valerie responded to some of the treatments her brother never did and ended up passing away at the age of 14 from open-heart surgery.

In the 1980’s there were a few treatments such as plasma apheresis that showed promise, but it was a struggle to go through. Valerie married and had a child in the 1980’s and while trying any new drug available she survived by going through the plasma pheresis. After she had a child, it was discovered that she needed a triple-bypass to survive. This procedure was performed in 1985. Then in 2009 she received a mechanical mitral valve, the repair of another valve, and a whole was closed in her heart. This meant she would also have to be on blood thinners the rest of her life. Over the next couple of years, she had two brain bleeds, and carotid arteries replaced and stented. She has survived all these procedures thanks to new medications. She now continues to fight this disease everyday by being diligent and taking advantage of every new drug. Valerie wants everyone with this disease to understand it is not a sprint but a marathon. Families now have hope and treatments available to them. Awareness is the key!

Helen H. Hobbs, MD

Investigator

Howard Huges Medical Institute Professor of Internal Medicine and Molecular Genetics University of Texas Southwstern Medical Center

Helen H. Hobbs, MD is an Investigator of the Howard Hughes Medical Institute and Professor of Internal Medicine and Molecular Genetics at University of Texas Southwestern Medical Center (UTSW). After graduating from Stanford University and Case Western Reserve Medical School, she trained in internal medicine at Columbia-Presbyterian and UTSW. Together with Jonathan Cohen, she has used human genetics to identify sequence variations of large effect size that alter plasma levels of LDL-cholesterol and triglycerides. She also discovered the two most impactful genetic risk factors for steatotic liver disease. Gene identification is the starting point for studies that have elucidated pathways and processes altered by the defective genes she has identified. She is a member of the National Academy of Medicine and National Academy of Sciences, and is recipient of The Breakthrough Prize in Life Sciences (2016) and the Harrington Prize for Innovation in Medicine (2018).

Heather M. Johnson, MD, MS, MMM

Preventive Cardiologist

Christine E. Lynn Women’s Health & Wellness Institute

Clinical Affiliate Associate Professor

Florida Atlantic University

Adjunct Associate Professor

University of Wisconsin-Madison

Dr. Johnson received her Master of Medical Management from the University of Southern California’s Marshall School of Business. Prior to joining the Lynn Women’s Institute, she practiced for 10 years as a Preventive Cardiologist and Non-invasive General Cardiologist at the University of Wisconsin-Madison. Dr Johnson’s research has focused on management of cardiovascular risk factors across the age spectrum. Dr. Johnson is a guest medical expert on television newscasts, radio shows, and podcasts. Dr Johnson also serves on national committees for the American Heart Association, American College of Cardiology, and serves on the board of the American Society of Preventive Cardiology.

Amit Khera, MD, MSc

Professor of Medicine

Director of Preventive Cardiology (UT)

Associate Chief of Cardiology for Faculty Development (UT)

Co-Director of the Familial Hypercholesterolemia Clinic University of Texas, Southwestern Medical School (UT)

Dr. Khera is the holder of the Dallas Heart Ball Chair in Hypertension and Heart Disease. His clinical and research interests include the primary and secondary prevention of coronary artery disease, focusing on risk assessment and risk factor modification in those with premature and familial disease.

Dr. Khera received his undergraduate degree in American History from the University of Pennsylvania. He obtained his medical degree from Baylor College of Medicine where he served as class president and was inducted into the Alpha Omega Alpha honor medical society. He completed an Internal Medicine Residency at Brigham and Women’s Hospital, Harvard Medical School, followed by a Cardiology Fellowship at the University of Texas, Southwestern Medical Center. He also completed his Masters degree in Epidemiology at the Harvard School of Public Health.

He is Past President of the American Society for Preventive Cardiology, Past President of the Dallas and South West Region Boards of the AHA and is currently Chair of the AHA Scientific Sessions Planning Committee. He was named Master of the American Society for Preventive Cardiology in 2023. Dr. Khera is an Associate Editor for Circulation and the American Journal of Preventive Cardiology. He has contributed over 200 publications in the field of preventive cardiology and has been named Best Doctor in Dallas and Texas SuperDoctor every year since 2014.

Joshua W. Knowles, MD, PhD

Assistant

Professor of Medicine

Stanford University Medical Center

Vice Chairman of the Board Chief Research Advisor

Family Heart Foundation

Joshua Knowles, MD, PhD is an Associate Professor of Cardiovascular Medicine at Stanford Health Care focused on treating cholesterol, heart attack, atherosclerosis, heart murmur, cardiomyopathy, and the application of genetics to improve human health. Dr. Knowles completed his MD-PhD in Genetics and Molecular Biology at the University of North Carolina, Chapel Hill under the mentorship of Prof. Nobuyo Maeda and Nobel Laureate Oliver Smithies. He completed his Internal Medicine residency and Cardiology fellowship training at Stanford working with Dr. Tom Quertermous.

Dr. Knowles is a physician-scientist with a focus on Familial Hypercholesterolemia (FH). As volunteer Chief Medical Advisor of the FH Foundation (FHF) he has helped lead the FHF efforts to establish a national patient registry (CASCADE FH), apply for an ICD10 code for FH and employ cutting-edge “big-data” approaches to identify previously undiagnosed FH patients in electronic medical records (FIND FH).

Dr. Knowles’ research involves discovery of genetic variants underlying cardiovascular disease, particularly coronary disease, and insulin resistance. He and his team are currently creating human induced pluripotent stem cell (iPSC) lines to model the genetic networks that produce disease. The goal is to translate these findings through a randomized trial to understand if it is possible to improve an individual’s risk by giving them information about their inherited risk of heart disease. He has published over 90 papers with research projects currently funded by the National Institutes of Health, the American Diabetes Association, the American Heart Association, and the Doris Duke Charitable Foundation.

Stacey Lane, JD, MBE

Individual living with FH

Past Vice Chair

Family Heart Foundation

Stacey Lane is a graduate of the University of Pennsylvania and received her J.D. from Fordham University School of Law. Additionally, she received a Master’s Degree in Bioethics from Penn, with a concentration in public policy and regulation of new medical technologies. Stacey previous served as a dedicated board member for the Family Heart Foundation. She is a member of the Board of Trustees of both the Montefiore Hospital system and the Albert Einstein College of Medicine in the Bronx and is working on several bioethics initiatives in the New York area. She also serves on the Board of Trustees of the Hastings Center and is a member of the Advisory Board of the Bioethics Master’s Program at Columbia University. Having been diagnosed with FH when she was 8 and elevated lipoprotein(a) shortly thereafter, Stacey was originally treated at Rockefeller University in New York in the 1960s and has been monitored consistently since that time. She is the mother of three sons, two of whom also have FH.

Speaker Bios

Ally Mast

Individual living with FH

Family Heart Ambassador

Family Heart Foundation

Ally Mast is committed to raising awareness on the dangers of early heart disease after suffering a life-threatening “widow-maker” heart attack in her twenties, followed by the sudden loss of her father a few months later. Ally is passionately advocating for early heart disease detection, alongside the Family heart Foundation, and warning physicians on the consequences of delayed interventions.

Khurram Nasir, MD

Professor of Medicine

Weill Cornell Medical College

Chief of Cardiovascular Prevention & Wellness Houston Methodist Internal Medicine Columbia University

Dr. Nasir received his MD from Pakistan, followed by followed by his master’s degree in public health at John Hopkins University. Dr. Nasir completed his internal medicine residency at Boston Medical Center and cardiology fellowship at Yale University.

He also received postdoctoral research training at the division of cardiology at Johns Hopkins Hospital and was recipient of NIH T-32 fellowship at Massachusetts General Hospital, Harvard University. In 2017, he earned a master’s degree in health economics and policy management for London School of Economics & Political Science.

His clinical research interests lie in refining a comprehensive process of using imaging, big data and genetics for provided personalized risk assessment and management, including women at risk for early heart disease. He is also focused on supporting underserved communities and promoting health equity for vulnerable minority populations. Dr. Nasir’s work has influenced national and international guidelines for early detection of heart attach risk and providing choices to the patent for treatment options.

Dr. Nasir has published more than 850 articles in academic journals. He is currently Associate Editor for the journal “Circulation: Cardiovascular Quality and Outcomes.” In 2013, he was awarded the “John Hopkins Distinguished Alumni Award”.

Steven Nissen, MD

Chief Academic Officer

Heart and Vascular Institute at the Cleveland Clinic Lewis

Patricia Dickey Chair in Cardiovascular Medicine Professor of Medicine

Lerner College of Medicine

Dr. Nissen’s initial research focused on intravascular ultrasound (IVUS) imaging to assess progression and regression of coronary atherosclerosis, conducting more than a dozen trials, most published in the NEJM or JAMA. More recently, he has served as Study Chair for large global cardiovascular outcomes trials, most studying lipid modifying therapies. He is directing clinical trials of several therapies for patients with elevated lipoprotein(a) including pelacarsen, zerlasiran, and lepodisiran. Dr. Nissen’s contributions to scientific literature include 700 journal articles. He is co-author of a book for patients with heart disease, Heart411 published by Crown Books.

He served as Chair of the Department of Cardiovascular Medicine at the Cleveland Clinic (2006-2019). In 2006-2007 he served as President of the American College of Cardiology (ACC), the professional society representing American cardiologists.

In 2007, he authored a NEJM manuscript that demonstrated that the widely used diabetes drug rosiglitazone (Avandia™) raised the risk of myocardial infarction, eventually leading in 2010 to withdrawal of the drug in Europe and severe restrictions in the US. In July 2008, while serving as guest of the Endocrine and Metabolism Advisory Panel, he recommended a new approach for approval of diabetes drugs, which was ultimately adopted by the Agency in December 2008.

Time Magazine selected Dr. Nissen as one of the world’s 100 most influential people. (2007) Beginning in 2015, he was named by Thompson-Reuters as one of the world’s most highly cited physician-scientist.

Michelle O’Donoghue, MD, MPH

Associate

Professor of Medicine

Harvard Medical School

Cardiovascular Division

Brigham and Women’s Hospital

Senior Member/Senior Investigator

Thrombolysis in Myocardial Infarction (TIMI) Study Group

Dr. O’Donoghue earned her medical degree from Columbia University College of Physicians and Surgeons in New York. She completed her residency in internal medicine and fellowship in cardiovascular medicine at Massachusetts General Hospital in Boston. She subsequently completed a master’s in Public Health degree at the Harvard School of Public Health. In 2022, she received the inaugural McGillycuddy-Logue Distinguished Chair in women’s cardiovascular health.

Dr. O’Donoghue’s primary research focus is the design and conduct of multicenter clinical trials for patients with stable and unstable coronary disease with a focus on the study of women and heart disease. She is the global Principal Investigator of several ongoing clinical trials. Additional clinical research interests include the evaluation of novel lipid-lowering and anti-inflammatory therapies, novel antiplatelet drugs, established and novel biomarkers and the development of novel therapeutics in the management of atherosclerosis and diabetes mellitus.

Tim Ouellette

Individual living with FH

Family Heart Ambassador

Family Heart Foundation

Tim Ouellette is a Family Heart Ambassador living with familial hypercholesterolemia (FH). Although his teenage diagnosis was an incidental finding, it should not have been, considering his father’s lineage and history of cholesterol, heart attacks and bypass surgery. At the age of 34, Tim’s older sister, Ann-Marie’s incidental finding of FH came at the expense of her autopsy report. She was found deceased in a parking lot on her way to pick up antibiotics. She had just left an emergency clinic with a diagnosis of "pneumonia." Turns out, she was having a major coronary event with near complete occlusion in most of her coronary arteries.

Tim’s cholesterol is now completely in check with a regimen of a PCSK9 inhibitor, a statin and aspirin. His adult son was tested at 16, diagnosed with FH and is on statins. Fortunately, Tim's grandchildren, tested at the age of two, have tested negative. Tim is committed to bringing awareness to others in hopes they can avoid the avoidable with knowledge, simple testing, and treatment as needed.

Amy L. Peterson, MD, MS

Pediatric Cardiologist and Director

Pediatric Preventive Cardiology Clinic

University of Wisconsin School of Medicine and Public Health

Scientific Advisor

Family Heart Foundation

Dr. Peterson is a Professor of Pediatrics at the University of Wisconsin School of Medicine and Public Health. She is a board-certified Pediatric Cardiologist and is also a certified Clinical Lipidologist from the American Board of Clinical Lipidology. She founded and directs the UW Health Kids Pediatric Preventive Cardiology Clinic, which is the only dedicated pediatric preventive cardiology service in Wisconsin. This clinic diagnoses and treats children with high cholesterol and cardiovascular risk factors in 6 locations around Wisconsin and Northern Illinois. She and her team have diagnosed and treated hundreds of children with FH and frequently diagnose their parents and siblings as well. She serves on the Scientific Advisory Board for the Family Heart Foundation, the American Academy of Pediatrics Committee on Nutrition, and the Young Hearts Cardiovascular Disease Prevention Committee of the American Heart Association.

Dr. Peterson’s research interests focus on pediatric cholesterol screening as well as diagnosis and treatment of Familial Hypercholesterolemia in children. The University of Wisconsin has the highest published rates of pediatric cholesterol screening in the United States. Her research team is currently investigating the feasibility of newborn screening for heterozygous and homozygous Familial Hypercholesterolemia.

Lisa Remshik, MSN, RN

Individual living with FH and high Lp(a)

Family Heart Ambassador

Family Heart Foundation

Lisa Remshik is a Family Heart Ambassador living with FH and elevated Lp(a). She learned she had FH following the death of her 24 year old brother. After several years of moderate treatment she was able to connect with Dr. Laurence Sperling, who has helped manage her FH and Lp(a) for over 20 years. Her daughter, Sidney Remshik, also a Family Heart Ambassador, was also diagnosed with FH and elevated Lp(a) at a young age. Lisa is very passionate about education and treatment for FH and Lp(a). She works as a Senior nurse manager with the preventive cardiology team at Emory Healthcare. She is active participant at Emory in Find FH and FIND Lp(a). She is dedicated to raising awareness and helping to ensure that families do not have to go through the pain of losing their loved one to FH or Lp(a).

Kate Robinson

Individual living with FH

Family Heart Ambassador

Family Heart Foundation

Kate Robinson resides in Norwell, Massachusetts with her husband, David, and her three children, Cameron (12), Colin (10) and Molly (7). She attended Boston College where she majored in Economics and was the Captain of the Women’s Ice Hockey team, competing at the Division I collegiate level. After college, Kate received her law degree from Suffolk University Law School. For most of her career, she specialized in the area of estate planning and estate administration. However, a few years ago she took a step back from practicing to focus on her children and their medical needs. She is very proud to hold the most important title right now, “Mom.”

Kate’s oldest child, Cameron, was diagnosed with HoFH in December of 2017 (at the age of 5 years old) when his LDL was 897 and they found out he already had a 90% blockage in his right coronary artery. This is what started the Robinson family’s journey of living with FH. Since then, Kate’s son, Colin, has been diagnosed with HeFH and her daughter, Molly, has also been diagnosed with HoFH (with her highest LDL being at a level of 802 at the young age of only 8 months old). In addition to her children, Kate’s husband also lives with FH and knows firsthand how important early detection and prevention is. He has been on and off of medication for the past 22 years and had two stents placed in 2018 to deal with two blocked arteries (one at 80% and the other at 85%). FH does not affect an individual, it affects an entire family. As a result of all of this, Kate understands the importance of spreading awareness and educating others about FH so that individuals living with FH can continue doing so with hope for the future.

Fatima Rodriguez, MD, MPH

Associate Professor in Cardiovascular Medicine

Stanford University Medical Center

Fátima Rodriguez, MD, MPH, FACC, FAHA is an Associate Professor of Medicine, Section Chief of Preventive Cardiology, and the Associate Director of Stanford’s Center for Digital Health. Dr. Rodriguez earned her medical degree from Harvard Medical School and her MPH from the Harvard School of Public Health as a Zuckerman Fellow at the Harvard Kennedy School’s Center for Public Leadership. She then completed internal medicine residency at Brigham and Women’s Hospital and fellowship at Stanford University before joining the faculty.

Dr. Rodriguez leads an interdisciplinary research program aimed at population-level interventions to eliminate disparities in cardiovascular disease and promote cardiovascular health. Her contributions to science include documenting racial and ethnic disparities in guideline adherence, personalizing cardiovascular disease risk prediction and prevention, artificial intelligence for opportunistic screening of atherosclerosis, and leveraging digital health tools to improve the care of diverse patients. She has authored over 240 peer-reviewed publications on these topics and received the 2022 American College of Cardiology’s Douglas P. Zipes Distinguished Young Scientist Award. Her work is funded by the National Heart, Lung, and Blood Institute, the American Heart Association, and the Doris Duke Foundation. Dr. Rodriguez is a Fellow of the American College of Cardiology, the American Heart Association, and the American Society of Preventive Cardiology. She serves as the Co-Chair of the National Minority Health Alliance and is a member of the American Heart Association’s Scientific Publishing Committee.

Laurence S. Sperling, MD

Katz Professor in Preventative Cardiology

Emory University School of Medicine

Professor of Global Health

Rollins School of Public Health

Executive Director

Million Hearts for the Division of Heart Disease and Stroke Prevention at the Centers for Disease Control and Prevention (CDC)

Executive Director

Medicare and Medicaid Services

Dr. Sperling is the Founder and former Director of The Heart Disease Prevention Center at Emory (19972019). He served as the President of the American Society for Preventive Cardiology (2014-2016), served on the writing committee (2018) for the ACC/ AHA Guideline on the Management on Blood Cholesterol, and serves as Associate Editor for the American Journal of Preventive Cardiology, and the Chair of the World Heart Federation writing group on the Roadmap for Cardiovascular Disease Prevention among People Living with Diabetes. He served on the Writing Committee of the American Heart Association Cardiovascular Kidney Metabolic Health (CKMH) Initiative which has brought forth the importance of an integrated approach to prevention and treatment in this high-risk population.

Dr. Sperling founded (in 2004) and directs the first and only LDL apheresis program in the state of Georgia and was the PI for The National FH Registry site at Emory. He has received awards for excellence in both teaching (including 4 Apple Awards and The Dean’s Teaching Award) and mentorship (Emory SOM 2018

Speaker Bios

Mentorship Award). He has received the Emory School of Medicine Alumni Award of Honor (2017), and the Pioneer in Prevention Award from the American Society of Preventive Cardiology in 2023. He is an elected member of the Association of University Cardiologists. He has been an investigator in several important clinical trials and has authored over 400 manuscripts, abstracts, and book chapters.

Benjamin M. Scirica, MD, MPH

Cardiologist

Brigham and Women’s Hospital

Senior Investigator

TIMI Study Group

Director, Innovation, Cardiovascular Division

Brigham and Women’s Hospital

Associate Professor of Medicine

Harvard Medical School

Dr. Scirica graduated from Harvard Medical School, trained in internal medicine and cardiovascular medicine at Brigham and Women’s Hospital, and has a Master of Public Health degree from Harvard School of Public Health. Dr. Scirica is also the Director of the Accelerator for Clinical Transformation at Mass General Brigham, a group that has developed a series of remote disease management programs.

His research interests center on identifying and applying novel therapeutic and care delivery strategies across the spectrum of cardiometabolic disease. He was the principal investigator of the AVANT GARDE-TIMI 43 trial, CAMELLIA-TIMI 61, CORALreef Outcomes-TIMI 77 and co-investigator of the MERLIN-TIMI 36, TRA 2Pº-TIMI 50, and SAVOR-TIMI 53 trials. Dr. Scirica has authored or co-authored over 200 peer-reviewed articles that have been published in The Lancet, New England Journal of Medicine, Journal of the American Medical Association, Circulation, and Journal of the American College of Cardiology.

Gale Titus

Individual living with FH and high Lp(a)

Family Heart Ambassador

Family Heart Foundation

Gail Titus is a devoted Family Heart Ambassador living with familial hypercholesterolemia (FH) and elevated lipoprotein(a)(Lp(a)). In 1997, Gail's cousin developed peripartum cardiomyopathy following the birth of her daughter. The cardiologist treating Gail's cousin discovered she had high Lp(a) and recommended she tell as many relatives as possible to get tested knowing it is a genetic condition. Through cascade screening, Gail was diagnosed with Lp(a) that same year. Fast forward to 2018. Gail suffered a retinal artery occlusion at the age of 58 which coincidentally was the same age her father died suddenly of a fatal heart attack. Her cardiologist and retinal specialist didn't have a clear explanation for her but recommended that she take 81mg of aspirin and a statin. In search for answers, Gail consulted with a lipidologist who then diagnosed her with FH. During her appointment, a medical student who was doing research for the Family Heart Foundation (FHF) happened to be at Gail's lipidologist's office that day and introduced her to the valuable resources that the foundation offers. Gail's health journey was forever changed by the sense of community at the FHF. Through multiple lipid lowering therapies, Gail is proud to say her LDL-C is now in the safe zone!

Gail enjoys spending time with her family, traveling, and advocating for the Family Heart Foundation!

Katherine A. Wilemon Founder & CEO Family Heart Foundation

Katherine Wilemon is the Founder, President & CEO of the Family Heart Foundation. She lives with a severe form of heterozygous familial hypercholesterolemia and elevated lipoprotein(a). The month she turned 39 years old, she suffered a heart attack. Katherine experienced first hand the life-threatening risk people face when their medical condition goes undiagnosed and poorly managed. In 2011, after several years of advocating for greater awareness of FH in the U.S. and Europe within in the medical community and more broadly, she established the FH Foundation, which is now known as the Family Heart Foundation.

The Family Heart Foundation, as the FH Foundation, developed innovative partnerships to accelerate the adoption of evidence-based diagnosis and treatment for individuals with FH, by harnessing the power of artificial intelligence, genomics and patient-driven research. The Foundation launched an ambitious real world data initiative to identify the 1.3 million individuals with FH in the U.S., established the largest longitudinal FH clinical registry in the world today, and applied for and received a national diagnosis code for FH. The Family Heart Foundation currently partners with patients, clinicians, scientists, and all participants in the healthcare ecosystem to develop lasting solutions to the barriers to diagnosis, treatment, and access to guideline recommended care for those born with high Lp(a) and FH.

At the end of 2021, after 10 years, the Foundation expanded its mission to include elevated Lipoprotein(a) and changed its name to the Family Heart Foundation to reflect this broader mission. It is the Foundation’s goal to apply the incredible efforts and improvements made for individuals living with FH to those with high Lp(a).

Highlights of Katherine’s strategic leadership of the the Family Heart Foundation to date, include:

• Establishing FH Awareness Day (September 24)

• Establishing Lp(a) Awareness Day (March 24)

• Establishing and maintaining the national CASCADE FH® Registry in partnership with 40 clinical sites, to collect comprehensive longitudinal data to better understand outcomes of FH and high Lp(a) diagnosis and treatment

• Applying cutting-edge informatics and big data through the Flag Identify Network Deliver (FIND) program to identify and reach undiagnosed FH and high Lp(a) individuals in major health systems

• Hosting the annual Family Heart Global Summit™ for scientists, physicians, thought leaders and key stakeholders, including people living with ASCVD, FH, and/or high Lp(a) to share research, insights, and best practices

• Advancing optimum clinical care of FH and high Lp(a) through healthcare provider educational program

• Applying for and securing ICD-10 Codes for FH and assisting with the ICD-10 Codes for high Lp(a)

• Accelerating FH diagnosis - from 1% to 30% of Americans with FH diagnosed in 10 years

• Building the FH and Lp(a) Communities, training volunteer Advocates, and serving thousands of patients with educational resources, peer support, and free care navigation

• Advocating for and shaping policies that impact the care of FH and high Lp(a)

• Authoring over 30 peer-reviewed publications

• Katherine has appeared in the NYT, Wall Street Journal, The Atlantic, Times, and print publications across the country to increase understanding of the complex breakdowns in healthcare that burden individuals at risk of accelerated cardiovascular disease. She regularly participates in national satellite media tours educating on familial hypercholesterolemia, high Lipoprotein(a), cholesterol lowering, and ASCVD and reaching millions by airing on multiple national TV and radio stations.

Clyde W. Yancy, MD, MDc

Vice

Dean of Diversity and Inclusion

Professor of Medicine & Chief of Cardiology

Northwestern Univ. Feinberg School of Medicine, Chicago

Associate Director, Bluhm Cardiovascular Institute

Northwestern Memorial Hospital

Dr. Yancy is a native of Louisiana, earning his bachelor’s degree at Southern University, Baton Rouge and his medical degree from Tulane University School of Medicine in New Orleans. He served an internship and residency in internal medicine at Parkland Memorial Hospital in Dallas. Yancy completed his fellowship in cardiology at the University of Texas Southwestern Medical Center in Dallas, where he received research training in the human physiology laboratories of Drs. Gunnar Blomqvist and Jere Mitchell, as well as advanced heart failure and heart transplant training from Dr. Maria-Teresa Olivari.

Dr. Yancy was faculty at UT Southwestern Medical Center, Dallas, for 17 years. While at UT Southwestern he held the Carl Westcott Distinguished Chair in medical Research, was associate dean for clinical affairs & served as medical director of the heart Failure/Heart transplant Program. Yancy was named Director of the Baylor Heart and Vascular Institute, Dallas in 2006. He also completed a master’s degree in healthcare management at The University of Texas, Dallas, Naveen Jindal School of Management (2010). Dr. Yancy holds the Magerstadt Endowed Professor Chair and holds an adjunct appointment as Professor in the Department of Medical Social Sciences.

Yancy’s research interests are heart failure, clinical guideline generation, outcomes sciences, personalized medicine and health equity. He is extensively published, with more than 700 peer-reviewed publications and one of the most highly cited scientific authors worldwide. He is deputy editor of JAMA Cardiology & senior section editor of the Journal of the American College of Cardiology (JACC): Heart failure. He also serves on the editorial boards for Circulation, circulation: Heart failure, the American Heart Journal and JACC: Heart failure.

Board certified in internal medicine, with a subspecialty in cardiovascular disease, Yancy holds the designations of Master of the American College of Cardiology (ACC), Master of the American College of Physicians, Fellow of the American Heart Association (AHA), Fellow for the Royal College of Physicians, Fellow of the Heart Failure Society of America, and Honorary Fellowships in the American Society for Preventive Cardiology & the Preventive Cardiovascular Nurses Association. He has led major randomized controlled trials in heart failure; served on numerous clinical practice guidelines. He is past co-chair of the ACC Diversity and Inclusion Taskforce & former president of the AHA (2009-2010). Yancy is the recipient of two AHA Gold Heart Awards, (2014 & 2022), the 2020 AHA James Herrick Award for distinguished achievement in clinical cardiovascular medicine & the 2021 AHA Chairman’s Award. He has completed expensive government service for the National Institutes of Health, the Food and Drug Administration and the Patient-Centered Outcomes Research Institute, where he served on the founding Methodology Committee setting standards for Patient Centered Outcomes Research.

Dr. Yancy is an elected member of the National Academy of Medicine & the American Assoc. of Physicians. He was appointed to the Minority Health Affairs Subcommittee, Department of Health & Human Services in 2018. That same year he received two different lifetime achievement awards: one for clinical research from WomenHeart & one for research and leadership in diversity from Cardiovascular Research Foundation. In 2022, he received the Heart Failure Society of America Distinguished Leadership Award (for education & mentorship). In 2023 he received the New York Academy of Medicine John Stearns Medal for Distinguished contributions in Clinical Practice.

Global Summit

The Family Heart Foundation® would like to thank our 2024 Family Heart Global Summit® sponsors for their continued commitment to driving the prevention of cardiovascular disease.