Universal Ramblings

Klippel Trenaunay Syndrome is a slow-flow combined vascular anomaly (capillary-lymphatic-venous malformation) that is typically associated with marked overgrowth of the leg and geographic capillary stains. The condition may rarely be associated with hypotrophy. Anomalous lateral veins, which are typically on the lateral aspect of the thigh, become prominent because of incompetent valves and deep venous anomalies.

Klippel-Trenaunay syndrome: Hemihypertrophy of the soft and bone tissue, hemangiomata, and varicose veins form the basic triad of this syndrome. Unilateral lesions of the legs with cutaneous and subcutaneous hemangiomas, varicosities, phlebectasis and occasional arteriovenous fistulae were emphasized in earlier reports, but later findings indicate involvement of many other parts of the body. Vascular anomalies may be present at birth or may appear in infancy. Occasional associated abnormalities may include lymphangiomatous anomalies, limb deformities, cutis marmorata, micro- or macrocephaly, eye diseases, and craniofacial deformities. Most patients have normal mentality, except when vascular lesions invade the cerebral tissue. In the absence of arteriovenous fistulae, the syndrome is often referred to as Weber syndrome or Parkes Weber syndrome. Klippel-Trenaunay-Weber syndrome is associated in some cases with Sturge-Weber angiomatosis.

Klippel-Trenaunay syndrome is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Klippel-Trenaunay syndrome, or a subtype of Klippel-Trenaunay syndrome, affects less than 200,000 people in the US population.

The photo shows typical features of Klippel-Trenaunay syndrome, enlarged leg with a capillary malformation or port-wine stain and varicoid veins.

Not all doctors are fully aware of what exactly KT syndrome is. If you are not comfortable with the answers that you are receiving, be sure to get additional opinions. In some cases that are more severe than others, delaying proper care can have adverse effects, including fatal, if not taken care of correctly. Some insurance companies look at treatments for birthmarks and other skin issues related to KT syndrome as being “cosmetic.” This is not true and should be fought against because again, not treating correctly in the beginning can be detrimental in the end.