Klippel Trenaunay Syndrome

February 7, 2017

Klippel Trenaunay Syndrome (KTS) is a birth defect that causes abnormal growth of blood vessels and or the lymphatic system. This can affect both males and females equally and is known to affect every race. No one truly knows what causes KTS to happen and why it occurs where it does. The usual defect will appear in one area of the body while it may also occur in multiple locations as well. KTS can severely limit the abilities of a person with the type of pain that it can produce. There are no known cures for KTS and it is an ongoing/lifelong disability in many of the people that have it.

The syndrome is characterized by a localized or diffuse capillary malformation (port-wine stain) that overlies a venous malformation and/or lymphatic malformation with associated soft tissue and bone hypertrophy (excessive growth). The port-wine stain (caused by swelling of small blood vessels near the surface of the skin) is typically substantial, varicose veins are often quite numerous, and bone and soft tissue hypertrophy (overgrowth) 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 may be present. 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. Small vesicles (lymphatic blebs) appear within the capillary lesion and can bleed, become irritated and get infected.

In young adults, the capillary malformation may thicken and become more prominent.


The cause of KTS is a mutation in primitive cells that form a limb that were destined to become blood and lymphatic vessels, fat, and bones. There is gathering evidence that this is a somatic mutation in the gene PIK3CA. Because this genetic alteration does not occur in the germ cells, KTS cannot be passed on in a family.


The symptoms of Klippel-Trenaunay syndrome vary from patient to patient, but the following features are characteristic of the disease –

  • A red birthmark – Most children with Klippel-Trenaunay syndrome are born with a red birthmark (also known as a “port-wine” stain) caused by swelling of the small blood vessels near the skin surface. The birthmarks are typically flat, cover part of one limb, and vary in color from pink to dark purple. The lesion may also develop small red blisters that easily break open and bleed.
  • Vein malformations (varicosities) – Varicose veins (twisted and swollen veins) are not always present at birth and may appear when a child with KTS begins to walk. While mostly superficial, these varicosities may be found in muscles and bones or even organs such as the spleen, liver, bladder or colon. Malformations of large veins can increase the risk of deep vein thrombosis, a type of blood clot that can lodge in the lungs and cause a life-threatening condition known as pulmonary embolism.
  • Limb abnormalities – Beginning even before birth, the increased blood supply from enlarged blood vessels can cause soft tissues and bone to grow faster than the rest of the body. This excessive growth (called hypertrophy) happens most often in one leg, but also may be seen in the arms, face, head or internal organs.

Other symptoms include:

  • Blood clots
  • Skin infections (cellulitis)
  • Anemia, as a result of bleeding/blood loss
  • Cysts, swelling or other lymphatic abnormalities
  • Chronic pain in the affected arm or leg


Most people with Klippel-Trenaunay syndrome do well, although the condition may affect their appearance. Some people have psychological problems from the condition.

There can sometimes be abnormal blood vessels in the abdomen, which may need to be evaluated.


Compression therapy – Compression garments are often advised for chronic venous insufficiency, lymphedema, recurrent cellulitis and recurrent bleeding from the capillary or venous malformation. They help to control swelling and pain in the limb and help protect the limb from trauma. Intermittent pneumatic compression pumps and manual lymphatic massages may also provide benefit.

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.

Shoe inserts – These are sometimes used to manage limb-length discrepancies that are less than 1 inch. For greater discrepancies, orthopaedic surgery may be considered.

Laser therapy – The flashlamp pulsed-dye laser is often effective in lightening the color of the port-wine stain in a patient with Klippel-Trénaunay syndrome. Many treatments are typically required to achieve a desirable result. Laser treatment is also indicated when there is ulceration and breakdown of lymphatic blebs, since it may speed the healing.

Surgery – Depending on individual circumstances and anatomical involvement a number of surgical options are occasionally 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. Sclerotherapy can also be used to damage lymphatic channels.

Low molecular weight heparin (LMWH) – This blood thinner (anticoagulant) can improve pain, phleboliths, and improve the risk of bleeding and clotting prior to the procedure.

Rapamycin – Rapamycin has been shown to improve young and old patients’ quality of life by improving pain, softening the malformation and decreasing bleeding from lymphatic blebs.

Alternative Treatment


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