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Oxford Handbook of Rheumatology

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Oxford Handbook of Rheumatology

Fourth Edition

Gavin Clunie

Consultant Rheumatologist and Metabolic Bone Physician, Addenbrooke’s Hospital, Cambridge, UK

Nick Wilkinson

Consultant Paediatric and Adolescent Rheumatologist, Evelina London Children’s Hospital, London, UK

Elena Nikiphorou

Consultant Rheumatologist, Whittington Hospital; Clinical Researcher, Academic Rheumatology Department, King’s College London, UK

Deepak Jadon

Consultant Rheumatologist and Director of the Rheumatology Research Unit, Addenbrooke’s Hospital, Cambridge, UK

Great Clarendon Street, Oxford, OX2 6DP, United Kingdom

Oxford University Press is a department of the University of Oxford. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide. Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries

© Oxford University Press 2018

The moral rights of the authors have been asserted

First Edition published in 2002

Second Edition published in 2006

Third Edition published in 2011

Fourth Edition published in 2018

Impression: 1

All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Oxford University Press, or as expressly permitted by law, by licence or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department, Oxford University Press, at the address above

You must not circulate this work in any other form and you must impose this same condition on any acquirer

Published in the United States of America by Oxford University Press 198 Madison Avenue, New York, NY 10016, United States of America

British Library Cataloguing in Publication Data

Data available

Library of Congress Control Number: 2017960672

ISBN 978–0–19–872825–2

Printed and bound in China by C&C Offset Printing Co., Ltd.

Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up-to-date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breast-feeding

Links to third party websites are provided by Oxford in good faith and for information only. Oxford disclaims any responsibility for the materials contained in any third party website referenced in this work.

Foreword

I am pleased to introduce you to the 4th edition of the Oxford Handbook of Rheumatology. This edition has increased in size, but continues to be just as accessible.  It presents the reader with a pragmatic approach to making a differential diagnosis. The approach to thinking about how to make sense of the history and clinical findings is clear. The common rheumatological conditions are covered well, and the new edition incorporates relevant sections on paediatric and adolescent rheumatology.

From the days of Sir William Osler, the art of listening to and observing the patient has been a key focus of what defines a good doctor. Medicine has advanced considerably since his day, but the core values of a physician have not changed.

The focus on good clinical history taking and examination technique is a reminder of the core skill set that we use as physicians. When all else fails, go back to the basic principles, and back to the patient. This book shows us how important that skill set is.

Royal College of Physicians London, UK

Preface

Rheumatic musculoskeletal conditions are common both in general and hospital practice. Musculoskeletal symptoms are a primary feature of many multisystem illnesses, not only in the autoimmune joint and connective tissue diseases, but also metabolic, endocrine, neoplastic, and infectious conditions. Symptoms are also common in the context of injury, age-related change, and psychological distress. Many conditions in rheumatology are a major source of morbidity and mortality.

We have kept the format of the previous edition for this version but importantly have updated the text to include paediatric and adolescent rheumatology.

Part I remains as a guide to evaluation of rheumatic and musculoskeletal disease from the point of referral and reflects the way clinical problems/ symptoms present to the clinician in real life. We have considered how this happens for adults, and new in this version, for children and adolescents, affected by rheumatological and musculoskeletal disease. The reader will find detail on musculoskeletal anatomy and functional anatomy in this part of the book.

Part II remains as the section of the book where the reader can find disease-specific information (e.g. spondyloarthritis, vasculitis, back pain, and so on). We have included paediatric sections in each chapter where there is relevance for disease occurring in children and adolescents, noting the difference in disease and its management in children and adolescents compared with adults.

Part III remains as medicine management and contains chapters on drugs used in rheumatology practice, glucocorticoid injection therapy, and rheumatological emergencies.

We have tried to avoid duplication but cross reference between chapters. We hope this book is helpful and informative for all doctors, physiotherapists, and specialist nursing practitioners who are faced with managing people and patients with undiagnosed musculoskeletal symptoms or established rheumatic musculoskeletal diseases.

Acknowledgements

The authors would like to acknowledge the work of the co-founder authoreditor of the textbook Dr Alan Hakim for his contribution, whom together with Dr Clunie, devised and wrote the book from the first edition and coauthor-editor Dr Inam Haq (who joined for the 2nd and 3rd editions), in helping to establish the Oxford Handbook of Rheumatology as the market leader small textbook for rheumatology.

Contributors

Dr Emma Davies

Specialist Registrar in Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, UK

Dr Catherine Fairris

Specialist Registrar in Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, UK

Dr Shabina Habibi

Senior Clinical Research Fellow, Royal National Hospital for Rheumatic Diseases, Bath, UK

Dr Philip Hamann

PhD Research Fellow & Specialist Registrar in Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, UK

Dr Dobrina Hull

Specialist Registrar in Rheumatology, Guys and St Thomas’ Hospital NHS Foundation Trust, London, UK

Dr Eiphyu Htut

Specialist Registrar in Rheumatology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Dr Anthony Isaacs

Specialist Registrar in Rheumatology, The Whittington Hospital NHS Trust, London, UK

Dr Ritu Malayia

Specialist Registrar in Rheumatology, Guys and St Thomas’ Hospital NHS Foundation Trust, London, UK

Dr Seraina Palmer

Fellow in Paediatric Rheumatology, Kinderspital, Zürich, Switzerland

Dr Elizabeth Reilly

Specialist Registrar in Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, UK

Dr Maliha Sheikh

Specialist Registrar in Rheumatology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

Dr Giulia Varnier

Fellow in Paediatric Rheumatology, Evelina London Children’s Hospital, Guys and St Thomas’ Hospital NHS Foundation Trust, London, UK

Dr Natasha Weisz

Specialist Registrar in Rheumatology, The Whittington Hospital NHS Trust, London, UK

Dr Cee Yi Yong

Specialist Registrar in Rheumatology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, UK

ESymbols and abbreviations

cross-reference

α alpha

β beta

i increased

d decreased

n normal

> greater than

< less than

7 approximately

∴ therefore

AAV ANCA-associated vasculitis

ABA abatacept

AC adhesive capsulitis

ACA anticentromere antibody

ACE angiotensin-converting enzyme

AChA acrodermatitis chronicum atrophicans

AC(J) acromioclavicular (joint)

ACL anticardiolipin

ACPA anticitrullinated peptide antibody(-ies)

ACR American College of Rheumatology

AD autosomal dominant

ADM abductor digiti minimi

AFF atypical femoral fracture

AICTD autoimmune connective tissue disease

AIS autoinflammatory syndrome

AKI acute kidney injury

ALNT anterolateral neospinothalamic tract

ALP alkaline phosphatase

ALT alanine transaminase

AMA amyloid A

AML amyloid L

ANA antinuclear antibody

ANCA antineutrophil cytoplasmic antibody

Anti-β2GP1 anti-β2 glycoprotein-1

AOSD adult-onset Still’s disease

AP anteroposterior

APB abductor pollicis brevis

APL abductor pollicis longus

APL antiphospholipid

APRIL a proliferation inducing-ligand

APS antiphospholipid (antibody) syndrome

APTT activated partial thromboplastin time

AR autosomal recessive

ARA American Rheumatism Association

ARB angiotensin II receptor blocker

ARDS adult respiratory distress syndrome

ARTEMIS Abatacept Treatment in Polymyositis and Dermatomyositis trial

AS ankylosing spondylitis

ASAS Assessment of Spondyloarthritis International Society

AST aspartate transaminase

ASOT antistreptolysin O titre

ASU avocado/soybean unsaponifiable

ATN acute tubular necrosis

axSpA axial spondyloarthritis

AZA azathioprine

β2GP1 β2 glycoprotein-1

BAFF B-cell activating factor (see also BLyS)

BAL bronchoalveolar lavage

BCP basic calcium phosphate (crystals)

BD Behçet’s disease

bDMARD biologic disease-modifying antirheumatic drug

BILAG British Isles Lupus Assessment Group

BLyS B-lymphocyte stimulator (see also BAFF)

BMC bone mineral content

BMD bone mineral density

BMI body mass index

BSR British Society of Rheumatology

BVAS Birmingham Vasculitis Activity Score

C cervical (e.g. C6 is the sixth cervical vertebra)

CA coracoacromial

CADM clinically amyopathic dermatomyositis

CAMPS CARD14-mediated psoriasis

CANDLE chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature

cAPS catastrophic antiphospholipid syndrome

CAPS cryopyrin-associated periodic fever syndromes

CARD caspase activation and recruitment domain

CBT cognitive and behavioural therapy

CCP cyclic citrullinated peptide

CDAI Clinical Disease Activity Index

CHB congenital heart block

CHCC Chapel Hill Consensus Conference

CINCA chronic, infantile, neurological, cutaneous, and articular syndrome

CK creatine kinase

CKD chronic kidney disease

CMC(J) carpometacarpal (joint)

CMP comprehensive metabolic panel

CMV cytomegalovirus

CNO chronic non-bacterial osteomyelitis

CNS central nervous system

COMP cartilage oligomeric matrix protein

COX cyclooxygenase

CPP calcium pyrophosphate

CPPD calcium pyrophosphate deposition

CREST calcinosis, Raynaud’s, (o)esophageal dysmotility, sclerodactyly, telangiectasia (syndrome)

CRMO chronic recurrent multifocal osteomyelitis

CRP C-reactive protein

CRPS complex regional pain syndrome

CS congenital scoliosis

CSF cerebrospinal fluid

CT computed tomography

CTX collagen X-link

cTnC cardiac troponin C

cTnT cardiac troponin T

CTS carpal tunnel syndrome

CWP chronic widespread pain

CXR chest radiograph

CYC cyclophosphamide

DAS Disease Activity Score

dcSScl diffuse cutaneous systemic sclerosis

DIC diffuse intravascular coagulation

DILE drug-induced lupus erythematosus

DIP(J) distal interphalangeal (joint)

DIRA deficiency of IL-1 receptor agonist

DISH diffuse idiopathic skeletal hyperostosis

DITRA deficiency of interleukin 36 receptor antagonist

DLCO diffusion capacity for carbon monoxide

DOMS delayed-onset muscular strain

DM dermatomyositis

DMARD disease-modifying antirheumatic drug

DVT deep vein thrombosis

DXA dual-energy X-ray absorptiometry

EA enteropathic arthritis

EANM European Association of Nuclear Medicine

EBV Epstein–Barr virus

ECG electrocardiogram

ECM erythema chronicum migrans

ECRB extensor carpi radialis brevis

ECRL extensor carpi radialis longus

ECU extensor carpi ulnaris

ED extensor digitorum

EDL extensor digitorum longus

EDM extensor digiti minimi

EDS Ehlers–Danlos syndrome

EED erythema elevatum dictinum

EHL extensor hallucis longus

EI extensor indicis

EGPA eosinophilic granulomatosis and polyangiitis

ELISA enzyme-linked immunosorbent assay

ELMS Eaton–Lambert myasthenic syndrome

EM erythema migrans

EMG electromyography

EN erythema nodosum

ENA extractable nuclear antigen

ENT ear, nose, and throat

EPB extensor pollicis brevis

EPL extensor pollicis longus

ERA enthesitis-related arthritis

ESR erythrocyte sedimentation rate

ESSG European Spondyloarthropathy Study Group

EULAR European League Against Rheumatism

F female

FBC full blood count

FCAS familial cold autoinflammatory syndrome

FCR flexor carpi radialis

FCU flexor carpi ulnaris

FD fibrous dysplasia

FDA Food and Drug Administration

18F-FDG fluorine-18 fluorodeoxyglucose

FDL flexor digitorum longus

FDP flexor digitorum profundus

FDS flexor digitorum superficialis

FENa fractional excretion of sodium

FFS Five-Factor Score

FGF fibroblast growth factor

FHB flexor hallucis brevis

FHH familial hypocalciuric hypercalcaemia

FJ facet joint

FLS Fracture Liaison Service

FM fibromyalgia

FMF familial Mediterranean fever

FPL flexor pollicis longus

FR flexor retinaculum

FVSG French Vasculitis Study Group

GALS gait, arms, legs, spine (examination)

GARA gut-associated reactive arthritis

GBS Guillain–Barré syndrome

GC glucocorticoid

GCA giant cell arteritis

GFR glomerular filtration rate

GH(J) glenohumeral (joint)

GI gastrointestinal

GIO glucocorticoid-induced osteoporosis

GLA gamma linoleic acid

GOA generalized osteoarthritis

GORD gastro-oesophageal reflux disease

HA hydroxyapatite

HAQ Health Assessment Questionnaire

HCQ hydroxychloroquine

HDCT hereditary disorder of connective tissue

h-EDS hypermobility (type) Ehlers–Danlos syndrome

HELLP haemolysis, elevated liver enzymes, and low platelets

HIDS hyper IgD syndrome

HIV human immunodeficiency virus

HLA human leucocyte antigen

HMG-COA 3-hydroxy-3-methyl-glutaryl-coenzyme A

HPOA hypertrophic pulmonary osteoarthropathy

HPT hyperparathyroidism

HRT hormone replacement therapy

HSCT haematopoietic stem cell transplantation

HSP Henoch–Schönlein purpura

HUS haemolytic uraemic syndrome

HTLV human T-cell leukaemia virus

IA intra-articular

IBD inflammatory bowel disease

IBM inclusion-body myositis

ICD implantable cardioverter defibrillator

IFN interferon

IgG4-RD immunoglobulin G4-related disease

IGRA interferon gamma release assay

IIM idiopathic inflammatory myopathy

IL interleukin

ILAR International League of Associations for Rheumatology

ILD interstitial lung disease

IM intramuscular(ly)

IMM idiopathic inflammatory myopathy

INR international normalized ratio

IP interphalangeal

ISCD International Society of Clinical Densitometry

ISG International Study Group

ISN International Society for Nephrology

ITB iliotibial band

IV intravenous(ly)

IVDU intravenous drug user

IVIg intravenous immunoglobulin

JAK Janus kinase

JAS juvenile ankylosing spondylitis

JCA juvenile chronic arthritis

JDM juvenile dermatomyositis

JIA juvenile idiopathic arthritis

JIIM juvenile idiopathic inflammatory arthritis

JIO juvenile idiopathic osteoporosis

JPM juvenile polymyositis

JPsA juvenile psoriatic arthritis

JRA juvenile rheumatoid arthritis

JSLE juvenile systemic lupus erythematosus

JSpA juvenile spondyloarthritis

KD Kawasaki disease

KUB kidney ureter bladder

L lumbar (e.g. L5 is the fifth lumbar vertebra)

LA lupus anticoagulant

LCL lateral collateral ligament

lcSScl limited cutaneous systemic sclerosis

LDA low-dose aspirin (75–150 mg/day)

LDH lactate dehydrogenase

LE lupus erythematosus

LEF leflunomide

LFTs liver function tests

LGL large granular lymphocyte

LH luteinizing hormone

LHE lateral humeral epicondylitis

LIP lymphocytic interstitial pneumonitis

LLLT low-level laser therapy

LMWH low-molecular-weight heparin

M male

MAA myositis-associated autoantibodies

MAGIC mouth and genital ulcers with inflamed cartilage

MAS macrophage activation syndrome

MCL medial collateral ligament

MCP(J) metacarpophalangeal (joint)

MCTD mixed connective tissue disease

MDI Myositis Disease Index

MDP methylene diphosphonate

MDT multidisciplinary team

MEN mycophenolate mofetil

MEVK mevalonate kinase

MFS Marfan syndrome

MG myasthenia gravis

MHC major histocompatibility complex

MKD mevalonate kinase deficiency

MMF mycophenolate mofetil

MMPI Minnesota Multiphasic Personality Inventory

MMT manual muscle test

mNY modified New York

MPA microscopic polyangiitis

MPO myeloperoxidase

MR magnetic resonance

MRA magnetic resonance angiography

MRI magnetic resonance imaging

MSA myositis-specific autoantibodies

MSK musculoskeletal

MSU monosodium urate

MTP(J) metatarsophalangeal (joint)

MTX methotrexate

MUA manipulation under anaesthesia

MVA mevalonic aciduria

MVK mevalonate kinase

MWS Muckle–Wells syndrome

MYOACT myositis disease activity index

MYODAM myositis damage index

NAI non-accidental injury

NCS nerve conduction study

NICE National Institute for Health and Care Excellence (UK)

NLE neonatal lupus erythematosus

NLRs NOD-like receptors

NMS neuromuscular scoliosis

NO nitrous oxide

NOAC novel oral anticoagulant

NOD nucleotide-binding oligomerization domain

NOMID neonatal-onset multisystem inflammatory disease

NSAID non-steroidal anti-inflammatory drug

NSF nephrogenic systemic fibrosis

OA osteoarthritis

OI osteogenesis imperfecta

OMIN Online Mendelian Inheritance in Man

ONFH osteonecrosis of the femoral head

OO osteoid osteoma

OT occupational therapist

PAH pulmonary artery hypertension

PAMPS pathogen-associated molecular patterns

PAN polyarteritis nodosum

PAPA pyogenic arthritis, pyoderma gangrenosum, and acne

PBC primary biliary cirrhosis

PCR polymerase chain reaction

PDB Paget’s disease of bone

PDE5 phosphodiesterase type 5

PE pulmonary embolism

PET positron emission tomography

PFAPA periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome

PHP pseudohypoparathyroidism

PIN posterior interosseous nerve

PIP(J) proximal interphalangeal (joint)

PL palmaris longus

PM polymyositis

PML progressive multifocal leucoencephalopathy

PMN polymorphonuclear neutrophil

PMR polymyalgia rheumatica

PoTS postural orthostatic tachycardia syndrome

PRR pattern-recognition receptor

Ps psoriasis

PsA psoriatic arthritis

PSA prostatic-specific antigen

PTH parathyroid hormone

PUO pyrexia of unknown origin

PV plasma viscosity

PVNS pigmented villonodular synovitis

RA rheumatoid arthritis

RAID rare autoinflammatory disease

RAPS rivaroxaban for antiphospholipid antibody syndrome

RCT randomized controlled trial

RD Raynaud’s disease

ReA reactive arthritis

RF rheumatoid factor

RhF rheumatic fever

RNA ribonucleic acid

RNP ribonuclear protein

ROD renal osteodystrophy

RP relapsing polychondritis

RPS Renal Pathology Society

RSD reflex sympathetic dystrophy (algo/osteodystrophy)

RSI repetitive strain injury

RS3PE remitting seronegative symmetrical synovitis with pitting oedema

RTA renal tubular acidosis

RTX rituximab

sACE serum angiotensin converting enzyme

SAI subacromial impingement

SAA serum amyloid A

SADAI Simplified Disease Activity Index

SAPHO synovitis, acne, palmoplantar pustulosis, hyperostosis, aseptic osteomyelitis (syndrome)

SARA sexually acquired reactive arthritis

SC subcutaneous

SC(J) sternoclavicular (joint)

Scl systemic scleroderma

SCS spinal cord stimulation

SD standard deviation

sDMARD synthetic disease-modifying antirheumatic drug

SERM selective oestrogen receptor modulator

SHPT secondary hyperparathyroidism

SI(J) sacroiliac (joint)

SIP Sickness Impact Profile

SLE systemic lupus erythematosus

SLEDAI Systemic Lupus Erythematosus Disease Activity Index

SLICC Systemic Lupus International Collaborating criteria

SNRI serotonin-norepinephrine re-uptake inhibitors

SoJIA systemic-onset juvenile idiopathic arthritis

SpA spondyloarthritis

SRC scleroderma renal crisis

SRP signal recognition peptide

SS Sjögren’s syndrome

SScl systemic sclerosis

SSRI selective serotonin reuptake inhibitor

SSZ sulfasalazine

STIR short tau inversion recovery

SUA serum uric acid

SUFE slipped upper femoral epiphysis

T thoracic (e.g. T5 is the fifth thoracic vertebra)

TA Takayasu arteritis

TB tuberculosis

TCZ tocilizumab

TENS transcutaneous electrical nerve stimulation

TFT thyroid function test

TGF transferring growth factor

TIA transient ischaemic attack

TLRs Toll-like receptors

TM(J) temporomandibular (joint)

TNFα tumour necrosis factor (alpha)

tPA tissue plasminogen activator

TPMT thiopurine S-methyltransferase

TRAPS tumour necrosis factor-associated periodic syndrome

TSH thyroid-stimulating hormone

TTP thrombotic thrombocytopenic purpura

U&E urea and electrolytes (in UK test includes creatinine)

UC ulcerative colitis

uPCR urine protein:creatinine ratio

US ultrasound

UV ultraviolet

VAS visual analogue scale

VDI Vasculitis Damage Index

vs versus

WBC white blood cell

WHO World Health Organization

WRD work-related disorder

XLHR X-linked hypophosphataemic rickets

Part I

The presentation of rheumatic disease

Evaluating rheumatological and musculoskeletal symptoms

Introduction 4

Musculoskeletal pain in adults 6

Elicited pain on examination in adults 10

Other presenting symptoms in adults 12

The adult gait, arms, legs, spine (GALS) screening examination 14

Pain assessment in children and adolescents 20

Limp and gait concerns in children and adolescents 22

Pyrexia, fatigue and unexplained acute-phase response in children and adolescents 23

The paediatric GALS screen 24

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