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 Children's Hospital Boston  300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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My Child Has:
Klippel-Trenaunay Syndrome
What is Klippel-Trenaunay syndrome?
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder of the blood and lymph vessels and surrounding soft tissue. The characteristics of this condition may include:

KTS
Why is Klippel-Trenaunay syndrome a concern?
Blood clots and cellulitis (infections in the skin) are common in KTS and can be very problematic. Pain and heaviness of the affected limb is a major concern with most patients.

Difference in size between the affected and non-affected limb can also cause problems. Leg length discrepancies may require a procedure to interrupt the growth plate.

In rare cases, patients with KTS may require amputation when the limb is grotesquely enlarged or disfigured.

What causes Klippel-Trenaunay syndrome?
The precise cause is unknown. It is believed to be caused by a mutation in the cells that form lymphatics, veins, and other tissues in a given region. No known food, medication, or activity during pregnancy can cause KTS.
How is Klippel-Trenaunay syndrome diagnosed?
KTS can be seen on prenatal ultrasonography and is obvious at birth. Diagnostic tools such as CT scan and MRI are used to determine the extent of the vascular anomaly.
How is Klippel-Trenaunay syndrome treated?
There is no known cure for KTS.

Patients should be evaluated by members of an experienced interdisciplinary vascular anomalies team. No single specialist can manage KTS and its associated problems, as interventional techniques and surgical procedures are often needed.

Treatment of the symptoms is the most effective therapy. These treatments may include:

  • Compression garments (worn on the affected limb) to reduce pain and swelling
  • Operation to correct uneven limb growth
  • Sclerotherapy to shrink abnormal veins
  • Operation to remove problematic veins
  • Operation to debulk excessive tissue
What research is being done on Klippel-Trenaunay syndrome?
KTS is caused by mistakes in the formation of blood and lymphatic vessels. The keys to understanding these "mistakes" lie in the basic sciences of molecular biology and molecular genetics. Investigators are currently probing the genes and molecules that regulate the formation and growth of blood/lymphatic vessels. Understanding the genes that control these molecular events will hopefully result in novel therapies for vascular malformations.
Listen to an Expert
Steven Fishman, MD, discusses the symptoms of Klippel-Trenaunay Syndrome and its innovative treatment at Children's Hospital Boston.

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