Review article, Klippel-Trenaunay syndrome, PIK3CA gene, AGGF1 gene, venous malformations
Medicine and Health Sciences
Klippel-Trenaunay Syndrome (KTS) is a rare congenital disease that causes improper lymph, capillary, and venous development that leads to malformations. The disease also causes hypertrophy of soft and bony tissues that, along with lymphedema and the previously stated malformations, causes localized enlargement. The most likely location for this localized enlargement is in the lower extremities. The genetic mutations associated KTS are within the Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha (PIK3CA) and Angiogenic Factor With G-Patch And FHA Domains 1 (AGGF1) genes. These mutations result in enhanced cell proliferation (angiogenesis). Current treatments for KTS are focused on preventative measures (compression and laser treatment). If those are not adequate, surgery is the next option involving removal of vascular malformations and the associated excess tissue (including sclerotherapy, debulking procedures, and last resort amputation). This review article evaluates current developments in our understanding of the genetics, physiology, and anatomy of KTS in order to investigate the development of better treatments for KTS.
Sheridan, Philip, "Current Understanding of Klippel-Trenaunay Syndrome: A Review Article" (2018). Honors Projects. 687.