Milroy's disease is a familial disease characterised by lymphedema, commonly in the legs, caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy of soft tissues. It is also known as Milroy disease, Nonne-Milroy-Meige syndrome and hereditary lymphedema.
The defect in Milroy's disease is present from birth and symptoms are usually first experienced in childhood. The most common problem is one-sided leg swelling, unilateral edema, which is progressive and can affect both legs. Impaired intestinal lymphatics can cause steatorrhea due to impaired transport of chylomicrons. Defective lymphocyte circulation can cause lymphopenia and impaired cell-mediated immunity.
This disease is more common in women and an association with the gene FLT4 has been described.
^W. F. Milroy. An undescribed variety of herditary edema. New York Medical Journal, 1892, 56: 505-508.
^Spiegel R, Ghalamkarpour A, Daniel-Spiegel E, Vikkula M, Shalev SA (2006). "Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3". Journal of Human Genetics51 (10): 846–50. doi:10.1007/s10038-006-0031-3. PMID16924388.