Understanding Klippel-Trenaunay Syndrome

Symptoms

The K-T syndrome is a rare congenital malformation that may include the following:

  • Port-wine stain or “birthmark” (cutaneous capillary malformations)
  • Soft tissue and bony hypertrophy (excessive growth of the soft tissue and /or bones)
  • Venous malformations & lymphatic abnormalities

Complications may include bleeding, cellulitis, venous thrombosis, or pulmonary embolism. Associated abnormalities in other systems, such as gigantism of toes, hand and feet anomalies, lymphedema, or involvement of the abdominal and pelvic organs may also occur.

K-T usually is limited to one limb, but may occur in multiple limbs and/or head or trunk area. Internal organs may be involved. Each case of K-T is unique and may exhibit the above characteristics to differing degrees.

Etiology

The etiology of Klippel-Trenaunay Syndrome is unknown. One theory is that K-T may be caused by mesodermal abnormalities during fetal development Another medical opinion suggests the cause may be the result of mutation of a gene.

Treatment

There is no known “cure” for the K-T Syndrome. Conservative treatment of the symptoms seems to be the most effective, without significant side effects. For example, elastic garments and pumps often relieve the effects of lymphedema .The elastic garment is also helpful in protecting the limb from trauma and decreasing the chances of bleeding from the hemangioma. Laser therapy may reduce or eliminate port-wine stains. Surgical procedures may be necessary to debulk excessive tissue, to excise veins or hemangiomatous tissue or to correct uneven growth in limbs (epiphyseal arrest), for example.

Computed Axial Tomography (CAT) and Magnetic Resonance Imaging (MRI) scans, and color doppler studies are useful in determining the scope of the syndrome and how best to manage it.

Terminology

The medical community at times has used the terms Klippel-Trenaunay Syndrome and Klippel-Trenaunay-Weber Syndrome interchangeably. The consensus today is to distinguish K-T as hypertrophy and varicosity associated with port-wine staining; K-T-W ( more correctly called Parkes- Weber Syndrome) is similar but includes significant arteriovenous malfomations with shunting.

PWS can refer both to port wine stain, a component of K-T, and Parkes-Weber Syndrome.

K-T Support Library

 Informational Brochure

Guide to Terminology Brochure

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