Klippel-Trenaunay-Weber Syndrome (cont.)

Medical Author:

David Perlstein, MD, MBA, FAAP

David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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Medical Editor:

William C. Shiel Jr., MD, FACP, FACR

William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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In this Article

• What is Klippel-Trènaunay-Weber (KTW) syndrome?
• What is a port-wine stain?
• What is asymmetrical limb hypertrophy?
• Are there other abnormalities in Klippel-Trènaunay-Weber syndrome?
• How is intelligence affected?
• What is the basic defect in Klippel-Trènaunay-Weber syndrome?
• What causes Klippel-Trènaunay-Weber syndrome?
• What is the prognosis (outlook) with Klippel-Trènaunay-Weber syndrome?
• Why is it called Klippel-Trènaunay-Weber syndrome?
• Alternative names for Klippel-Trènaunay-Weber (KTW) syndrome
• Klippel-Trenaunay-Weber Syndrome Index

Intelligence is usually not impaired in Klippel-Trènaunay-Weber. However, when there are hemangiomas on the face (facial hemangiomatosis), there may also be hemangiomas in the brain which can cause seizures (convulsions) or mental retardation. Fortunately, such problems are rare in Klippel-Trènaunay-Weber.

It is not completely known, but some researches believe part of the defect is related to the control of angiogenic cells (precursors of blood vessels). Others believe it is caused by some injury to the developing embryo within the womb, resulting in venous compression and resultant abnormal venous pressures, causing varicosities and limb enlargement. In other words, we don't currently know the precise events that lead to the development of Klippel-Trènaunay-Weber.

Most cases of Klippel-Trènaunay-Weber are sporadic. They occur without warning, with no prior case in the family; however recently there have been some cases that run in families.

Most persons with Klippel-Trènaunay-Weber have an enlarged leg and they do relatively well without any significant treatment. It can be helpful to wear compression stockings to prevent venous pooling in the affected extremity (varicose vein management). However, some Klippel-Trènaunay-Weber patients do have considerable pain. Skin ulcers, infections and other skin problems can occur, but usually the treatment is conservative. Surgery is almost never needed.