Klippel-Trenaunay syndrome

 Klippel-Trenaunay syndrome

Overview

Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the lymphatic system. The main features include a red birthmark (port-wine stain), ranging in color from pink to reddish-purple, atypical vein or lymphatic development (malformations), and overgrowth of tissues and bones. These findings most often affect one leg but may occur in an arm or elsewhere.

Although there is no cure for KTS, treatment goals are to improve symptoms and prevent complications.

Symptoms

People who have KTS 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 often covers part of one leg but can involve any portion of the skin. It may get darker or lighter with age.

Vein malformations. These include swollen, twisted veins (varicose veins), usually on the surface of the legs. Deeper malformed veins in the arms, legs, abdomen and pelvis also can occur. There may be spongy tissue filled with small veins in or under the skin. Malformed veins may become more prominent with age.

Overgrowth of bones and soft tissue. This begins in infancy and may be 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, there may be fusion of fingers or toes or extra fingers or toes.

Lymphatic system malformations. The lymphatic system — part of the immune system that protects against infection and disease and transports lymphatic fluid — can be malformed. Extra lymphatic vessels can be present that don't work properly and can lead to fluid leakage into the tissues and swelling.

Other conditions. KTS can also include cataracts, glaucoma, hip dislocation at birth, purple-red skin coloring when cold and blood-clotting problems.

Causes

KTS often occurs because of a change (mutation) in the PIK3CA gene. The gene change occurs sporadically (for no known reason). You don’t receive the gene from your parents.

Some people have KTS without having the PIK3CA mutation. Because of this, researchers think other gene mutations could also cause KTS.

Diagnosis

Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your health care provider:

Asks questions about your family and medical history

Does an exam to look for swelling, varicose veins and port-wine stains

Visually evaluates growth of bones and soft tissues

Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include:

Duplex ultrasound scanning. This test uses high-frequency sound waves to create detailed images of blood vessels and blood flow.

MRI and magnetic resonance (MR) angiography. These procedures help differentiate between bone, fat, muscle and blood vessels and can identify malformations.

Scanogram. Also called scanner photography, this X-ray technique creates images of bones and helps measure their lengths.

CT scan or CT angiography. A CT scan creates 3D images of the body that help show blood clots in veins.

Contrast venography. This procedure involves injecting a dye into veins and taking X-rays that can reveal atypical veins, blockages or blood clots.

Coagulation studies. These tests can help evaluate how the blood clots.

Genetic studies. These tests can identify the characteristic pattern of gene differences (gene signature) that may explain why the condition occurred.

Treatment

Although there's no cure for KTS, 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.

Skin care. Skin hygiene of the affected limb can reduce infection risk and be part of treatment for superficial bleeding.

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 remove or lighten port-wine stains and to treat leaking and bleeding blebs on the skin.

Laser or radiofrequency ablation of veins. This minimally invasive procedure is used to close off malformed veins.

MR-guided ablation. Blood vessels are treated with a laser or cautery under MRI guidance.

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. Some people have benefited from oral medications that may help to treat complex vascular and lymphatic malformations that cause symptoms. But these drugs may have significant side effects that require monitoring. Topical sirolimus may help relieve symptoms of superficial vascular malformations. Studies are ongoing to determine the effectiveness and safety of these medications in people with KTS.

In addition, treatment may be needed for complications such as bleeding, infection, blood clots or skin ulcers. Special care may be needed during pregnancy to prevent complications.

Type of Doctor Department :Vascular anomalies, Radiology, Plastic surgery, Orthopedics, Hematology and Other specialties.