About klippel-trenaunay syndrome
What is klippel-trenaunay syndrome?
Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving abnormal development of blood vessels, soft tissues (such as skin and muscles), bones, and the lymphatic system. The main features include a red birthmark (port-wine stain), overgrowth of tissues and bones, and vein malformations with or without lymphatic abnormalities.
Although there is no cure for KTS, the goal is to manage symptoms and prevent complications.
What are the symptoms for klippel-trenaunay syndrome?
People who have Klippel-Trenaunay syndrome may have the following features, which can range from mild to more extensive:
- Port-wine stain. This pink to reddish-purple birthmark is caused by extra tiny blood vessels (capillaries) in the top layer of skin. The birthmark usually covers part of one leg, but can involve any portion of the skin, and may get darker or lighter with age.
- Vein malformations. These include swollen, twisted veins (varicose veins) usually on the surface of the legs. Deeper abnormal veins in the arms, legs, abdomen and pelvis can occur. There may be spongy tissue filled with small veins in or under the skin. Venous abnormalities may become more prominent with age.
- Overgrowth of Bones and soft tissue. This begins in infancy and is usually limited to one leg, but it can occur in an arm or, rarely, in the trunk or face. This overgrowth of bone and tissue creates a larger and longer extremity. Rarely, fusion of fingers or toes, or having extra fingers or toes occurs.
- Lymphatic system abnormalities. The lymphatic system — part of the immune system that protects against infection and disease and transports lymphatic fluid — can be abnormal. Extra lymphatic vessels can be present that don't work properly and can lead to leakage and Swelling.
- Other conditions. KTS can also include cataracts, glaucoma, hip dislocation at birth and blood-clotting problems.
When to see a doctor
Klippel-Trenaunay syndrome is usually identified at birth. It's important to get a prompt, accurate diagnosis and appropriate care to treat symptoms and prevent complications.
What are the causes for klippel-trenaunay syndrome?
Klippel-Trenaunay syndrome is a genetic condition. It involves genetic changes (mutations) most commonly in the PIK3CA gene. These genetic changes are responsible for development of tissues in the body, resulting in overgrowth.
KTS is not usually inherited. The gene mutations occur randomly during cell division in early development before birth.
What are the treatments for klippel-trenaunay syndrome?
Although there's no cure for Klippel-Trenaunay syndrome, your doctor can help you manage symptoms and prevent complications.
Because KTS may affect many systems in the body, your health care team may include specialists in vascular medicine and surgery, skin diseases (dermatology), interventional radiology, orthopedic surgery, physical therapy and rehabilitation, and other areas as needed.
You and your doctor can work together to determine which of the following treatments are most appropriate for you. Treatments may include:
- Compression therapy. Bandages or elastic garments are wrapped around affected limbs to help prevent swelling, problems with varicose veins and skin ulcers. These bandages or elastic garments often need to be custom-fit. Intermittent pneumatic compression devices — leg or arm sleeves that automatically inflate and deflate at set intervals — may be used.
- Physical therapy. Massage, compression and limb movement as appropriate may help relieve lymphedema in arms or legs and swelling of the blood vessels.
- Orthopedic devices. These may include orthopedic shoes or shoe inserts to compensate for differences in leg length.
- Epiphysiodesis (ep-ih-fiz-e-OD-uh-sis). This is an orthopedic surgical procedure that effectively can stop length overgrowth of the lower limb.
- Embolization. This procedure, performed through small catheters placed into the veins or arteries, blocks blood flow to certain blood vessels.
- Laser therapy. This procedure may be used to lighten port-wine stains and to treat early blebs on the skin.
- Laser or radiofrequency ablation of veins. This minimally invasive procedure is used to close off abnormal veins.
- Sclerotherapy. A solution is injected into a vein, which creates scar tissue that helps close the vein.
- Surgery. In some cases, surgical removal or reconstruction of affected veins, removal of excess tissue, and correction of the overgrowth of bone may be beneficial.
- Medication. Early research indicates that a drug called sirolimus (Rapamune) may help to treat symptomatic complex vascular malformations, but it may have significant side effects and more studies are needed.
In addition, treatment may be needed for complications such as bleeding, pain, infection, blood clots or skin ulcers.
What are the risk factors for klippel-trenaunay syndrome?
Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Klippel-Trenaunay syndrome will have another child with the disorder, even if one of the parents has KTS.