February 29th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the thirteenth installment.
Day 13 – Klippel-Trénaunay-Weber Syndrome
What is it? Klippel-Trénaunay-Weber Syndrome (KTS) is a congenital condition effecting blood vessels and/or lymph vessels. It effects males and females equally and is not limited to any specific racial or ethnic group.
What effects does it have on the body? The main characteristics of KTS are a port wine stain birthmark, venous and lymphatic malformations -including major varicose veins and finally hypertrophy of bony and soft tissues. Some other effects of KTS include limb underdevelopment, fingers and toes that may be too large, too small, webbed or even missing, large or small head and a face where one side is possibly smaller than the other. Those with KTS are at a higher risk of developing eye problems such as cataracts and glaucoma. They may also suffer from urinary tract and intestinal problems.
How is it treated? Because of the complexity of KTS no single treatment is available. Some options include surgery for effects such as varicose veins, bone deformity and limb length correction. Several non surgical options are also available like compression therapy.
Where can I learn more? You can learn more at Medicine Net‘s website.
