Klippel-Trenaunay Syndrome

Blood Vessel Disorder

Klippel-Trenaunay syndrome is a blood vessel disorder that is present at birth. It causes malformations of the blood vessels and changes in the skin and bones. Klippel-Trenaunay syndrome affects both males and females. It is not known what causes the syndrome nor how often it occurs.

Symptoms

Symptoms of Klippel-Trenaunay syndrome may include:

• a large port wine stain birthmark (caused by a malformation of small blood vessels under the skin)
• hemangiomas (abnormal masses of blood vessels under the skin)
• varicose veins
• excessive growth of soft tissue and/or bones
• fused toes or fingers (called syndactyly)
• extra toes or fingers

These abnormal blood vessels usually occur on one leg or arm, but they may occur on more than one limb. An affected limb may be enlarged and feel warmer than normal. Sometimes a hemangioma or other blood vessel malformation may cause abnormal bleeding.

Two disorders have symptoms similar to Klippel-Trenaunay syndrome. One is Parkes-Weber syndrome (often called Klippel-Trenaunay-Weber syndrome). Another similar disorder is Sturge-Weber syndrome. Both of these disorders also have port wine stain and blood vessel abnormalities as symptoms. However, unlike Klippel-Trenaunay syndrome, Parkes-Weber syndrome and Sturge-Weber syndrome include tangles of blood vessels called arteriovenous malformations (AVMs), and are more likely to be more severe with more difficult symptoms.

Diagnosis

The symptoms of Klippel-Trenaunay syndrome are present at birth. Diagnosis is based on the symptoms, especially the presence of the port wine stain and excessive growth of soft tissue or bone. A CT scan and MRI are helpful in determining the extent of the syndrome.

Treatment

Treatment of Klippel-Trenaunay syndrome focuses on the symptoms. Conservative treatment seems to be most effective. An elastic stocking or garment worn on the affected limb helps reduce some of the enlargement and reduce risk of bleeding from hemangioma. Laser surgery can reduce or eliminate some of the port wine stain. Surgery may be needed to remove overgrown tissue or bone, to remove varicose veins or hemangiomas, or correct uneven growth in the limbs.

Although serious complications such as bleeding, cellulitis, or blood clots may occur in Klippel-Trenaunay syndrome, many people are able to live well while managing their symptoms. Each person will be affected by the syndrome in a unique way, so treatment will be tailored to the individual's particular combination of symptoms.

_Sources:

"NINDS Klippel-Trenaunay Syndrome (KTS) Information Page." Disorders A - Z. 28 July 2008. National Institute of Neurological Disorders and Stroke. 26 May 2009.

"Description of Klippel-Trenaunay Syndrome." Understanding Klippel-Trenaunay Syndrome. Klippel-Trenaunay Syndrome Support Group. 26 May 2009.