Klippel-Trenauney Syndrome  (KTS)

What is Klippel-Trenaunay Syndrome?

Klippel-Trenaunay Syndrome, or KTS, is a vascular malformation with an associated syndrome. It is a syndrome that has abnormal vessels and limb overgrowth. They have capillary malformations, which can be seen on the skin, venous malformations, with slow blood flow that can cause clots and sometimes lymphatic malformations with limb overgrowth, which could be an arm, leg or part of the chest. PIK3CA genetic mutation is often associated with the syndrome. Patients can have bleeding, clotting, ulcerations, pain, inability to move and life-threatening complications.

What are the signs or symptoms of Klippel-Trenaunay Syndrome?

The characteristics of this syndrome are a mixed venous-lymphatic malformation usually involving the extremities. There is typically a port wine-like stain on the affected limb, and there is usually a difference in size between the affected and nonaffected limb, the affected one being more prominent. The growth tends to be slowly progressive and can be painful with cramping.

How is Klippel-Trenaunay Syndrome Treated?

There is currently no cure for KTS, and treatment is centered around preventing progression and controlling symptoms. Your care team at Arkansas Children's will work with you to create the best treatment plan for your child. Treatment options include:

• Compression garments and a regimen of physical therapy are important, with swimming a good activity to exercise the limb and improve circulation while minimizing swelling.
• Laser treatments can be done to treat vesicles that sometimes form on the skin, and surgery is not curative but can be recommended in some cases.
• Targeted therapy with medications like Alpelisib, a PIK3CA inhibitor medication, as the PIK3CA mutation is often seen in these patients.