Klippel-Trenaunay Syndrome (KTS)

What is Klippel-Trenaunay Syndrome?

Klippel-Trenaunay Syndrome is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly and there is abnormal growth of soft and bone tissue.

This vascular disorder involves Capillary, Lymphatic and Venous abnormalities and using these initials some authors use the acronym CLVM to describe the malformations caused by the disease. Others use KTS as a general umbrella term for diseases connected to CV malformations (CVM) or just capillary stain (CM).

Primitive cells that were supposed to become veins, arteries or lymphatic vessels, bone or fat form a limb instead. This mutation is sporadic, meaning that there is no proven inheritance pattern and this is due to the fact that the mutation does not concern germ cells, and therefore, remains somatic.

What are the Symptoms of Klippel-Trenaunay Syndrome?

Typical symptoms of KTS include capillary stains (sometimes referred to as “╦ťhemangiomas’) which are abnormal benign growths on the skin consisting of masses of blood vessels and varicose veins, port-wine stains with sharp borders, an improperly developed lymph system, fused toes or fingernails, extra toes or fingernails, and hypertrophy of bony and soft tissues that can lead to shrinking in the lower body and legs.

In certain cases internal bleeding may occur due to blood vessel malformations involving organs such as the vagina, stomach, rectum, liver spleen, bladder, heart, kidneys, or lungs. These individuals are also at risk for developing blood clots. The cause of the mutation that leads to Klippel-Trenaunay syndrome is unknown.

Klippel-Trenaunay Syndrome Causes

Klippel-Trenaunay syndrome is caused by a genetic mutation, one which is almost always sporadic and occurs during the early stages of development in the womb. Contributing factors to this mutation are not currently known.

Research into the exact causes of this condition are ongoing, but there is no one prevailing theory for now. At the moment, researchers are working with several competing theories as to what causes the mutation that leads to Klippel-Trenaunay syndrome. These theories include:

  • intrauterine damage
  • deep vein abnormalities
  • mesodermal defects (defects in the middle layer of the embryo during early development)
  • an underlying combination of mesodermal and ectodermal dysplasia

Klippel-Trenaunay syndrome happens randomly and is not believed to be an inherited condition. It does not affect one gender over another, and no one ethnic group is more vulnerable to it than another.

How is Klippel-Trenaunay Syndrome Treated?

The condition is complex and therefore there is no one form of treatment that applies to all cases. Sclerotherapy involves the injection of a chemical into the affected veins to cause thickening and obstruction of the targeted vessels to allow normal blood flow to continue. Laser surgery is used to diminish or erase some skin lesions.

Compression garments are recommended for older children and adults to alleviate pain, inflammation, and swelling in the affected area. When compression therapy is combined with elevation the patient can lead a comfortable life without the need for surgery.

Klippel-Trenaunay Syndrome Prevention

Because Klippel-Trenaunay syndrome is the result of a sporadic mutation that occurs in the early stages of pregnancy, there is no way to prevent it from happening. Symptoms of this condition are usually treated as they appear in order to slow down some of the effects as well as stop some of the complications from happening before they actually occur.

Once there is a diagnosis, parents of a child diagnosed with Klippel-Trenaunay syndrome should discuss potential management plans with their child’s doctor. Strategies for managing care will be different from person to person. The individual strategy will depend on which symptoms of the condition have already been noted and which complications arise later on.

Medical treatment should be sought immediately upon experiencing new or recurring symptoms of the condition. Doing this, as well as setting up a care management plan, can help to lessen or prevent some of the complications.

Last Reviewed:
October 06, 2016
Last Updated:
March 13, 2018