Klippel-Trenaunay Syndrome (KTS)

Klippel-Trenaunay syndrome (KTS) is a rare vascular anomaly that is present at birth (congenital). It may be diagnosed on a pre-natal ultrasound and has characteristic features, such as:

• Capillary malformations
• Venous malformation
• Hemi hypertrophy of the affected extremity
• Lymphatic malformation or lymphedema

Most cases of KTS are caused by a mutation of the PIK3CA gene. The mutation of this gene is responsible for many of the overgrowth syndromes identified. These mutations are only present in some of the body’s cells, and therefore symptoms of KTS only affect those parts of the body with the genetic mutation. These mutations are known to occur after conception, and likely very early in fetal development. KTS is not known to be inherited.

Diagnosis:

You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan.

Additional testing may include:

• Doppler ultrasound
• MRI
• Coagulation studies
• Genetic testing

Treatment:

Since there is no cure for KTS, managing this disorder is based on a patient’s unique symptoms. Treatment modalities are conservative and may include:

• Sclerotherapy
• Compression garments
• Complete decongestive therapy to manage lymphedema
• Surgeries to de-bulk tissue overgrowth, and procedures or orthotics to manage limb length discrepancies
• Laser therapy to treat skin lesions
• Anti-immunologic medications, such as sirolimus
• Medications to manage blood clotting, as well as pain management