Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome is a rare congenital vascular disorder present at birth. It is also known as Klippel-Trenaunay Weber syndrome. It leads to abnormal development of blood vessels, soft tissues, bones and the lymphatic system. It has characteristic features such as a port-wine stain (reddish-purple birthmark), abnormal overgrowth of soft tissues, and bones and malformation of veins. Sometimes, fusion of fingers or toes, or extra fingers or toes, may also occur at birth.

Port-wine stain is caused due to swelling of tiny blood vessels under the skin. It is usually observed in a part of one leg, and sometimes one arm. It may get darker or lighter with increasing age. Sometimes, it may lead to infections and bleeding.

Vein malformations are the swollen, twisted veins (varicose veins) on the surface of the legs, leading to pain and skin ulcers. Circulation of blood is very low in these areas. Deeper vein malformation leads to abnormal veins and increases the risk of deep vein thrombosis resulting in pulmonary embolism. It also leads to bleeding, infection or inflammation in the lungs.

Overgrowth of soft tissue and bones can occur in an arm or in the trunk; leading to a larger and longer extremity. This overgrowth can cause pain and heaviness leading to problems with movement.

Lymphatic system abnormalities lead to lymphedema in the tissues of arms or legs and lymphatic cysts in the spleen, or infections of the skin layer.

The cause of Klippel-Trenaunay syndrome is unknown. It may involve genetic changes, but it is not an inherited condition.

The symptoms of Klippel-Trenaunay syndrome includes

  • Port-wine stain
  • Extra fingers or toes
  • Webbed fingers or toes
  • Muscle cramps
  • Joint pain
  • Rectal bleeding
  • Inflammation on skin

The diagnosis involves a complete physical examination along with certain questions to the patient regarding familial and medical history. The diagnostic studies used are:

Duplex scanning: High-frequency sound waves are used to create detailed images of blood vessels.

Scanogram: It is an X-ray technique which takes scanned images of bones. It helps to measure the length of the bones.

Magnetic resonance angiography: Magnetic resonance angiography is used to differentiate between bone, fat, muscle and blood vessels.

CT scan: It is used to create 3 dimensional images of whole body, which helps to observe blood clots in veins.

Contrast venography. In this procedure, a dye is injected into the veins to take X-ray images which help in visualizing abnormal veins, blockages or blood clots.

The different treatment strategies for Klippel-Trenaunay syndrome are based on the affected area. The affected limbs are wrapped with bandages or elastic garments to prevent swelling, varicose veins and skin ulcers. Physical therapy massages will be helpful to relieve swelling in arms or legs. Patients with joint pain and orthopedic issues are suggested to use orthopedic shoes to improve health, function, and reduce pain. The port-wine stains on the skin can be lightened or eliminated by laser therapies.

Laser or radiofrequency ablation techniques are used to open the closed veins or close off the abnormal veins. The blocks in arteries and veins are removed by a technique called embolization. In this procedure, small catheters are placed in the arteries or veins. Sclerotherapy is also used to close the vein by creating a scar tissue. Vena cava filters are used to prevent blood clots that travel to the veins. In some cases, surgery may be suggested to remove the affected veins.

The overgrowth of the lower limb can be stopped by an orthopedic procedure called epiphysiodesis. The overgrown bones can also be corrected by surgery. In addition, treatment is essential for complications such as bleeding, infection, blood clots or skin ulcers.