Klippel-Trenaunay Syndrome is a rare disease that can result in many severe symptoms. These symptoms include a port-wine stain, which is a type of birthmark; excessive growth of soft tissue or bones; and venous or lymphatic abnormalities (Description of Klippel-Trenaunay Syndrome.) A port-wine stain is caused by malformations of the capillaries and is an unattractive purple stain that can appear on any part of one's body. The disease affects most people on their lower extremities. It is made of excessive skin and bone tissue. They constrict circulation and eventually cause the limb to die. Often, the intensity of the stain lessens with age, but the bleeding of the stain increases. If the stain is on or around the eye, glaucoma can develop. Symptoms can often be noticed and diagnosed from birth; it is not a disease that can be acquired throughout life.
Scientists are presently conducting research on Klippel-Trenaunay Syndrome in an effort to discover its cause, but they have yet to fully determine its cause. However, they have discovered that the disease may be autosomal dominant. They also have theories that the capillary malformations may occur during fetal development.
Venous abnormalities include possible absence of the deep venous system or the inferior vena cava, located in the heart. Lymphatic abnormalities include growths that occur at the extremity that the disease has attacked. These growths are the result of abnormal lymphatic drainage that cause masses of soft tissue to build up. The exact incidence of these abnormalities is unknown, but it has been determined that twenty percent of patients affected with Klippel-Trenaunay Syndrome have leaky lymph vessels that cause these horrific growths (Klippel-Trenaunay Syndrome.)
There are many treatments for Klippel-Trenaunay Syndrome, though most are superficial. Compression therapy is a treatment in which an tight elastic band is put around the port-wine stain, ultimately resulting in less bony mass. Laser therapy can be used to reduce the appearance of the port-wine stain by making it lighter in color, but this treatment is very painful. Makeup such as Covermark and Dermablend has been developed to hide the stain. Epipysiodesis is an operation that can make relative limbs the same length, since one limb being longer than the other is a very prevelant symptom of this disease. Antibiotics can be used treat cellulitis. Amputation of the affected extremity is very common because the disease is so painful. These treatments are all helping to relieve the painful or unattractive symptoms of Klippel-Trenaunay syndrome. The photoderm VL System is being developed to treat the port-wine stains that come with Klippel-Trenaunay Syndrome. Pulse Dye Laser treatments are being developed, and have thus far proven to be an effective treatment (Klippel-Trenaunay Syndrome.) EMLA cream is currently on the market, but is undergoing sensitivity testing to reduce port wine stains. Argon lasers were developed a few years ago, but were discovered to cause scarring and are therefore uncommonly used. Everyday, new ways of treating Klippel-Trenaunay Syndrome are being developed to help the disease's victims.
Click on the picture to go to the Casey Martin Web Page
Recently, the famous PGA tour athlete who has Klippel-Trenaunay Syndrome, Casey Martin, had to fight for the right to participate in golf tournaments because the disease affects his right leg and he therefore needs to use a golf cart. There was a hearing to decide if he should be allowed to play, and was granted the right to play with the use of a roofless golf cart. Martin was granted a permanent injunction that allowed him to ride a cart because of the risk of further injury to his leg. The PGA tour has appealed that ruling on the grounds that the organization should govern itself and determine its own rules. The appeal could take years to complete and meanwhile, Martin will be able to ride his cart and continue to play in the PGA tour.
Casey Martin. PGA Tour. 15 March 1998 http://www.pgatour.com/pgatour/html/bios/20445.htc.
Description of Klippel-Trenaunay Syndrome. University of Minnesota. 15 March 1998 http://www.tc.umn.edu/nlhome/m474/vesse001/description.html.
Klippel-Trenaunay Syndrome. University of Minnesota. 21 March 1998 http://www.tc.umn.edu/nlhome/m474/vesse001/driscoll.
Steffano, Michael D. Home Page. 22 March 1998 http://www.fc.net/~msteffan/guide.htm.
Vogel, Steven. Vital Circuits. New York: Oxford University Press, 1992.
