The Vascular Birthmarks Foundation Dr. Linda Rozell-Shannon, PhD President and Founder

Matthew S. Nole
Baldwin-Wallace College
November 23, 1998

Abstract

Klippel-Trenaunay Syndrome was first described by two French doctors, Klippel and Trenaunay in 1900. This congenital vascular disorder is described by three main symptoms, known as the “triad,” affecting one or more limbs. The triad consists of cutaneous hemangioma, varicose veins, and bone and soft tissue hypertrophy. Typically, the cutaneous hemangioma is a substantial port-wine stain, or nevus. Varicose veins are easy to identify and often very numerous. The bone and soft tissue hypertrophy is variable and the affected limb may be either larger or smaller than the opposite, unaffected limb. Many treatments for this disorder have been attempted. Although surgical and non-surgical proc edures have been developed, most tend to have negative results. Research on this topic has shown that surgery with this disorder is very risky and often unnecessary. In severe cases requiring surgery, amputation was most often the final outcome. Many studies have successfully experimented with the effects of sclerotherapy on varicose veins. New research on non-surgical wraps and supports has been developed to decrease the effects of the symptoms of this disorder on the patients.

Introduction

Klippel-Trenaunay Syndrome is a rare, congenital, vascular disorder affecting one or more limbs. Klippel-Trenaunay Syndrome was first noted in a 1900 publication of Archives Generales de Medecine. In the article, Du Naevis Variquex, Osteo-Hypertrophique, French physicians Klippel and Trenaunay described a clinical syndrome with three major symptoms (Gloviczki, 1982). These main symptoms are often referred to as the “triad.” The triad consists of hemangiomas, bone and soft tissue hypertrophy, and vein varicosities. Hemangiomas are often apparent at birth, or by two weeks of age (Samuel, 1995). The hemangioma, or nevus, is usually confined to a part of the limb. In other cases, the entire limb is affected by the hemangioma (Samuel, 1995). Capillary hemangiomas are the most common type and are called port wine stains due to the red and purple color (Letts, 1977). Bone and soft tissue hypertrophy is a result of increased growth around an organ. In many cases, limb length is affected and t he length of the limb is different than the normal limb. The soft tissue hypertrophy is symmetrical around the affected extremity. In most cases, the girth of the limb is larger, although atrophy is common in some patients. Varicose veins are often v ery noticeable in Klippel-Trenaunay Syndrome patients. Varicose veins result from damaged or defective valves in a vein. A vein becomes damaged when the smooth muscle in the wall of veins weakens and the valves cannot support the weight of blood. T he pressure on the valve causes it to collapse and it no longer functions properly. Klippel-Trenaunay Syndrome patients are affected by other symptoms as well (See Table 1). These symptoms are variably expressed and may not have identical effects on other patients. Each case of Klippel-Trenaunay Syndrome is unique. In 1907, Parkes and Weber described a disorder with the same symptoms involved in Klippel-Trenaunay Syndrome with the addition of arteriovenous fistula. This derivative of Klippel-Trenaunay Syndrome was called Klippel-Trenaunay-Weber Syndrome.

Although the cause of Klippel-Trenaunay Syndrome is still unknown, there are two theories that have been argued by the medical community. The first argument is that Klippel-Trenaunay Syndrome is a mesodermal abnormality during fetal development (Baskerville, 1985). The mesodermal abnormalities cause vascular and soft tissue malformations in the effected limb. The other argument states that Klippel-Trenaunay Syndrome is caused by gene mutation. Although heredity does not appear to be the cause of Klippel-Trenaunay Syndrome, it is a possible option (Nielson, 1987). If heredity were the cause, the mutation would be autosomal recessive due to fact that both sexes are equally affected and the involvement of this disorder is extremely sporadic.

Attempts to treat the symptoms to this disorder have included surgery, sclerotherapy, and compression therapy. Different types of surgical intervention include vein ligation, vein stripping, vein resection, and amputation. Vein ligation is a procedure which clamps or \ldblquote ties off\rdblquote a section of veins. The clamp prevents blood flow through the damaged section of veins and promotes blood flow through undamaged veins. Vein stripping uses a metal wire to remove varicosities from within the damaged vein. Vein resection, or excision, is a procedure that removes a section of veins from the body. Amputation is a procedure that removes a portion of a limb. Digits and extremities are commonly amputated. The use of Sclerotherapy denies blood flow through defective veins by introducing chemicals into a specific vein. The chemical, a sclerosing agent, causes inflammation in the inner lining of the defective veins. As the inner wall of the vein becomes inflamed, blood is not permitted to flow through the vein. The vein later collapses and is broken down and absorbed by the body. Some of the chemicals used in sclerotherapy include sotradecol, ethanolamine, and absolute ethyl alcohol. Various forms compression garments have been developed to control the effects of varicose veins and hypertrophy caused by edema. These garments have been effective in reducing the effects of Klippel-Trenaunay Syndrome. Compression socks, elastic wraps, neoprene wraps and other more complex devices are used in compression therapy.

The purpose of this study was to compare the final results from surgical intervention, chemical intervention (sclerotherapy), and compression therapy in patients with Klippel-Trenaunay Syndrome. Since compression therapy does not seem to cause further harm to the body, the focus on my study will look at whether or not compression therapy is more effective than surgical intervention and chemical intervention at reducing the effects of Klippel-Trenaunay Syndrome.

Methods

This study was a collaboration of research p ublished by medical professionals. A list of published articles pertaining to Klippel-Trenaunay Syndrome was obtained from the director of the Klippel-Trenaunay Syndrome support group. Various articles from this list were col lected from several libraries: Pickerington Public Library, Prior Library at the Ohio State University, the Health Science Library at Case Western Reserve University, and the National Organization of Rare Disorders web page. The articles found from these sources were carefully reviewed. On November 6, 1998, I presented my findings to the Biology department at Baldwin-Wallace College in the form of a Microsoft Power Point presentation. The topics of the presentation were placed into this paper.

Results

The three predominate studies that were found included a review of 18 surgical cases, a review of 5 cases that underwent sclerotherapy, and finally a review of compression therapy on 16 patients with Klippel-Trenaunay Syndrome affecting their lower extremities.