Future treatments The identification of the causal gene mutation in lymphedema distichiasis does raise the possibility of different treatments for the condition including gene therapies, but these are unlikely to be available in the near future. The greater understanding of the molecular mechanisms of the production of lymphedema in lymphedema distichiasis may give rise to future drug treatments. Again, this is not likely to be available in the very near future but remains a possible development.
that an individual with a FOXC2 mutation may not have major problems from it. At present it is not possible to predict the impact of the individual types of mutation.
3. M ellor R, Brice G, Stanton et al. (2007) Mutations in FOXC2 are Strongly Associated With Primary Valve Failure in Veins of the Lower Limb. Circulation 115:1912–1920.
Conclusion In the last 15 years, there has been a significant increase in the understanding of lymphedema distichiasis as a result of genetic and other related research. The discussion in this article reflects our current knowledge. There is still much to learn. LP
Antenatal testing Evidence of lymphedema distichiasis may be detected in the form of congenital heart problems on an ultrasound scan of the fetus in utero in families where FOXC2 mutation is known. Antenatal gene testing may also be an option but may not necessarily be helpful in treatment decisions in view of the noted variability in the effect of FOXC2 mutations within individual families. It is possible
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References 1. Brice G, Mansour S, Bell R et al. (2002) Analysis of the Phenotypic Abnormalities in Lymphoedema-Distichiasis Syndrome in 74 Patients With FOXC2 Mutations or Linkage to 16q24. J Med Genet 39:478–483. 2. Mansour S, Brice W, Jeffrey S et al. (2012) Lymphoedema-Distichiasis Syndrome. http://ncbi.nlm.nih.gov/books/NBK1547.
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Source: 100 Questions and Answers about Lymphedema, p.6.
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Editor’s Note: Primary lymphedema is a result of a congenital or hereditary condition that affects how the lymphatic vessels are formed. Primary lymphedema may result from a hypoplasia of lymphatic vessels (a decrease in the number of lymphatics formed), a hyperplasia of lymphatic vessels (vessels that are too large to be functional) or an aplasia (absence) of lymphatics. Many different types of primary lymphedema exist. Some of the most common types are Nonne-Milroy’s disease, Meiges’s disease and Distachiasis syndrome.
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