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Klippel-Trenaunay-Weber syndrome is a congenital condition characterized by a birthmark, soft skin, and varicose veins. It can cause limb enlargement, heart failure, and other problems. Treatment options include surgery, sclerotherapy, compression therapy, and elevating the affected limb. There is no cure for the syndrome.
Klippel-Trenaunay-Weber syndrome is a congenital condition that is diagnosed by identifying three characteristics: a birthmark or deep red mark on the skin; the development of very soft skin in one or more limbs; and the presence of varicose veins. Hypertrophy, or significant enlargement, of a limb occurs in patients as the syndrome progresses. Klippel-Trenaunay-Weber syndrome was first recognized by physicians Maurice Klippel and Paul Trenaunay in 1900. Seven years later, Dr. Frederick Parkes-Weber discovered similar symptoms in some of his patients and named Klippel-Trenaunay-Weber syndrome. Trenaunay-Weber was created to name these symptoms.
The syndrome is congenital, which means it is evident at birth. Unlike other congenital syndromes, this one is not selective for any gender or race, although tachycardia, or increased heart rate, is a greater risk in females. There is no cure for Klippel-Trenaunay-Weber syndrome.
Serious, even fatal outcomes can occur due to this syndrome. Heart failure can occur if the condition leads to problems between arterial and venous connections. Such cases are known as the Parkes-Weber variant of Klippel-Trenaunay-Weber syndrome.
The mortality rate of the syndrome is about 1%, but the rate of morbidity or incidence of problems caused by the syndrome is very high. Problems that Klippel-Trenaunay-Weber patients experience include those associated with blood flow and lymph flow. Because blood, lymph, or a combination of both cannot flow properly, they will pool in the affected limb. Pressure builds up, which can cause a lot of pain. Swelling often occurs, and infections and ulcers can develop if the swelling is not relieved.
While there is no cure for Klippel-Trenaunay-Weber syndrome, there are a few treatment methods available. Because the severity of the syndrome varies from one patient to another, treatment is done on an individual basis and as needed. Surgery is an option for some patients and is referred to as debulking. Debulking is basically the removal of a tumor or ulcer. This is usually a temporary solution to problems caused by Klippel-Trenaunay-Weber syndrome.
Other treatment options include amputation of an affected limb, although this is not a recommended procedure for most patients as it doesn’t seem to help over time. Sclerotherapy is what works for some patients. This treatment involves the use of chemical injections as opposed to surgery. The chemicals help create blood flow between the arteries and veins.
Elevating a swollen, affected limb can help relieve some of the pain caused by the collection of blood and lymph fluids. Compression therapy is also helpful. This involves wearing a compression garment over the swollen limb or limbs.
