How to Identify Klippel Trenaunay Syndrome

Klippel Trenaunay syndrome (KTS) is a combination on different vascular malformations. It is a syndrome comprised of a lymphatic malformation, port wine stain birthmark, and bony overgrowth. First discovered in 1900 by French doctors Klippel and Trenaunay, the condition was described as a syndrome that affects the patient's bones in their limbs and soft tissue. In 1907, another doctor by the name of Parkes Weber added an additional finding which includes some patients having an arteriovenous malformation in addition to the bone and soft tissue abnormalities. This additional finding brought on the discovery of Klippel Trenaunay Weber Syndrome, also know as Parkes Weber Syndrome (KTWS), due to the additional malformation.
While the names are practically the same, there is one major difference between Klippel Trenaunay Syndrome and Klippel Trenaunay-Weber Syndrome. Both conditions have to be diagnosed by a knowledgeable physician who is trained on dealing with such a condition. The first step in being knowledgeable is knowing how to diagnose KTS and KTWS based on the patients appearance and/or symptoms. Because KT looks identical to other conditions at first glance, there are other issues to be aware of to prevent further injury or increased morbidity in the patient.

Instructions

• 1

  One of the first noticeable characteristics of KT syndrome is a capillary hemangioma, known as a port wine stain. Port wine stains are birthmarks that are located in the affected area of the body. Over time, these birthmarks can change and turn a deeper color (dark red or purple). Port wine stains do not grow or shrink (other types of hemangiomas will grow and then reduce in size).

• 2

  Varicose veins and localized pain are identifiers of KT syndrome. Although not always seen at birth, these veins will begin to appear over time. Localized pain can be due to increased pressure in the veins. These variscosities can be superficial (which will help to get a proper diagnosis from a physician) or they can be in the deeper venous system.

• 3

  Specific to KTWS, evidence of arterial involvement can be found. In the affected limb, a pulsating sound or lubb dub (such as the sound of the heart through a stethsoscope) can be heard. This is a prime indicator that blood is pumping into areas of the body that it should not be forced into normally. Life threatening issues with this include cardiac failure, and loose blood clots in the blood stream.

• 4

  Noticing major bone deformities or overgrowth is a prime identifier of KTS. This overgrowth can be of an entire limb, or just digits (such as the toes or fingers). Occasionally, the limb may actually be smaller than the normal limb.

• 5

  Additional indicators include duplicate fingers or toes, ulcerations at the location of the birthmark, thrombosis and infections stemming from the location of the condition.