Hereditary lymphedema is a genetic developmental disorder affecting the lymphatic system. It is characterized by swelling (edema) of certain parts of the body. The lymphatic system is a circulatory network of vessels, ducts, and nodes that filter and distribute certain protein-rich fluid (lymph) and blood cells throughout the body. Feb 09, · Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty.
Excerpted from the GeneReview: Milroy Disease Milroy disease is characterized by lower-limb lymphedema, present as pedal edema at (or before) birth or developing soon after. Occasionally it develops later in life. The severity of edema shows both inter- and intrafamilial variability. May 26, · FOXC2 was the second lymphedema gene found, and was first identified in by Fang et al. FOXC2 is responsible for causing the lymphedema-distichiasis syndrome (LD). Individuals with LD have lymphedema of pubertal or adult onset as well as distichiasis, which is the presence of extra eyelashes.
Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Mutations in the FOXC2 gene cause the Lymphedema-Distichiasis (LD) Syndrome, which consists of lymphedema and distichiasis (double rows of eyelashes). The lymphedema is often confined to the lower extremities, is asymmetric, and has a variable age of onset.
Lymphatic filariasis is a parasitic disease caused by three species of microscopic, thread-like worms. The adult worms only live in the human lymph system. The lymph system maintains the body’s fluid balance and fights infections.