Milroy’s disease is an autosomal dominant congenital lymphedema affecting females more than males. In humans, it is linked to the gene FLT4, which codes for vascular endothelial growth factor (VEGFR)-3. These receptors are associated with the proper development of the lymphatic system. Thus, changes in the FLT4 gene could lead to dysfunctional (or lack of) VEGFR-3. Without it, the physiological activity of the lymphatic system is disturbed and this would result in the disruption of the normal drainage of the lymph. This leads to fluid retention and accumulation, which is a major indication of Milroy’s disease. The condition is named after William Milroy, a Canadian physician that described (although not the first to do so) a case in 1892. The typical symptom is unilateral lower extremity lymphedema that may possibly occur with hydrocele. Abbreviation: MD. Synonyms: Nonne-Milroy-Meige syndrome, Hereditary lymphedema.
- Spiegel, R., Ghalamkarpour, A., Daniel-Spiegel, E., Vikkula, M., & Shalev, S. A. (2006). “Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3”. Journal of Human Genetics. 51 (10): 846–50.
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