Klippel-Trénaunay Syndrome

Klippel-Trénaunay syndrome (KTS) is a rare congenital (present at birth) disorder. However, it is the most common condition involving combined vascular malformations.

The syndrome is characterized by a localized or diffuse capillary malformation (portwine stain) that overlies a venous malformation and/or lymphatic malformation with associated soft tissue and bone hypertrophy (excessive growth). The portwine stain is typically substantial, varicose veins are often quite numerous, and bone and soft tissue hypertrophy is variable. The affected limb is either larger or smaller than the unaffected limb. Hypertrophy occurs most commonly in the lower limbs, but may affect the arms, the face, the head or internal organs. Additionally, a wide range of other skeletal and skin abnormalities sometimes coexists. Patients may have an increased extremity circumference and an increase or decrease in the length of the limb.

Bony enlargement is usually not present at birth, but may appear within the first few months or years of life and may become particularly problematic during puberty. The affected area grows longer and thicker due to increased blood supply. Sometime after puberty and before age 30, small vesicles (lymphatic blebs) appear within the capillary lesion. In some patients, small lymphatic vesicles may appear. These vesicles may leak clear or blood-tinged fluid. In young adults, the capillary malformation may thicken and become more prominent.

Symptoms vary according to the severity of the dominant vascular component and its location.

  • If lymphatic malformations are dominant, soft tissue swelling and enlargement will occur.
  • If venous malformations are dominant, episodes of painful thrombosis (clotting) will occur.
  • Patients often experiences muscle cramping or joint pain when walking.
  • When the lower gastrointestinal tract (intestines) is involved, rectal bleeding often occurs.
  • When there is bladder involvement, blood is often seen in the urine.

Careful clinical and radiologic assessment of the affected limb should be done at regular intervals to assess for limb length discrepancy and to formulate an approach for prevention and treatment of overgrowth. For lower-limb overgrowth beyond a 2-centimeter (bit less than 1 inch) differential, orthopaedic intervention may be necessary.

Patients with Klippel-Trénaunay syndrome can have numerous complications.

  • Skin changes can cause bleeding, infection (cellulitis), or chronic ulceration (skin breakdown).
  • Patients can have internal lesions that bleed or become infected.
  • Chronic pain is a serious issue secondary to the above issues.
  • Venous varicosities may lead to phlebitis (inflammation of the lining of the vein) and the development of small clots and phleboliths (calcium deposits in the veins).
  • Patients can have clotting abnormalities. Blood clots in the legs and lungs can be life threatening.
  • Hypertrophy (overgrowth) of a limb can lead to curvature of the spine (vertebral scoliosis) and can affect how patients walk. Also, it can compromise function.

Management of Klippel-Trénaunay syndrome is dependent upon individual symptoms. Although both nonoperative and surgical approaches are used, treatment is primarily nonoperative and supportive.

Supportive care includes:

  • Compression therapy. Compression garments are often advised for chronic venous insufficiency, lymphedema, recurrent cellulitis, and recurrent bleeding. They also protect the limb from trauma. Intermittent pneumatic compression pumps also may be beneficial.
  • Pain medication, antibiotics, and limb elevation. These treatments are all used to manage cellulitis.
  • Anticoagulant therapy (the use of substances that prevent blood clotting). This approach is indicated in cases of acute thrombosis (clotting) and is also used as a preventive measure prior to surgical procedures.
  • Heel inserts. These are sometimes used to manage limb length discrepancies that are less than 1 inch. For greater discrepancies, orthopaedic surgery may be considered.

Surgical interventions include:

  • Laser therapy. The flashlamp pulsed-dye laser is not as effective in lightening the color of the portwine stain as it is in a patient with a portwine stain only. Many treatments are typically required to achieve a desirable result. Laser treatment is also indicated when there is ulceration, since it tends to effect quicker healing.
  • Surgery. Depending on individual circumstances and anatomical involvement, removal of a problematic area of abnormal tissue (debulking surgery) is sometimes advised.
  • Sclerotherapy. This treatment consists of the injection of a chemical into the vein causing inflammation. As the inner wall of the vein becomes inflamed, blood cannot flow through it. The vein then collapses and forms scar tissue.