Lymphedema Family Study
WHERE: University of Pittsburgh
PURPOSE: To determine how lymphedema is inherited in families
GOAL: To identify genes responsible for primary LE
TYPE: Linkage study
HOW: Comparison of genetic material between family members with/without LE
RESULTS to DATE: Two genes identified that cause primary LE – VEGFR3 and FOXC2
VEGFR3 Vascular endothelial growth factor receptor 3 This was the first LE gene identified. It is located on chromosome 5 and is involved in the formation of lymphatic vessels during prenatal development. There are several published articles about this gene.
FOXC2 Second LE gene identified. This gene causes lymphedema-distichiasis syndrome (LD). People with LD have pubertal or adult onset LE, as well as distichiasis. Distichiasis is the presence of extra eyelashes. These eyelashes may present as long and think, or may become ingrown, when they are often removed. Infrequently, these people may be born with a heart defect, cleft palate or ptosis (droopy eyelids).
Not all hereditary LE is caused by these 2 genes, so we know there must be at least one more gene responsible for this type of LE. Study is ongoing and results will be published as possible.Lymphedema Genetics
Complete information on both the VEGFC gene and the FOXC2 gene
Lymphatic Research Foundation
The Lymphatic Research Foundation is a 501(c)(3) not-for profit organization whose mission is to advance research of the lymphatic system and to find the cause of and cure for lymphatic diseases, lymphedema, and related disorders.
LRF's immediate goals are to increase public and private funding for lymphatic research and increase public awareness.
* editor's note: I very highly recommend the LRF and hope my readers will support this tremendous organization.
Additional Information on Lymphedema Research:
Lymphedema Research Centers