Klippel-Trenaunay Syndrome: Symptoms, Treatment

Overview

Klippel-Trenaunay syndrome (KTS) is a rare congenital condition that often involves abnormal development of blood vessels, soft tissues (such as skin and muscles), bones, and the lymphatic system. The disease is characterized by three features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations, like varicose veins.

KTS is also called Klippel–Trénaunay–Weber syndrome, angio-osteohypertrophy syndrome or congenital dysplastic angiopathy. According to data, at least 1 in 100,000 people worldwide is affected by the disorder. There is no cure for KTS, but proper treatment plans can help manage the symptoms and prevent further complications.

Cause

Most cases of KTS occur for no clear reasons. Studies show that genetics play a role in developing the disease. More specifically, genetic mutations in the PIK3CA gene can put individuals at higher risk. These genetic changes are responsible for the development of tissues in the body, resulting in overgrowth.

However, KTS is not usually inherited. The gene mutations occur randomly during cell division in early development before birth.

Symptoms

The signs and symptoms of KTS can range from mild to extensive. General symptoms include;

  • Many port-wine stains or other blood vessel problems, such as dark spots on the skin
  • Varicose veins, which are swollen and twisted veins usually on the surface of the legs
  • Overgrowth of bones and soft tissue, which may be accompanied with pain in the limbs

Other manifestations of KTS may include:

  • Blood clots
  • Hip dislocation
  • A skin infection
  • Blood in the urine
  • Bleeding from the affected limb
  • Anemia
  • Seizures

Diagnosis

Patients with KTS may have excessive growth of bones and soft tissue. This occurs most commonly in the legs, but it also may affect the arms, face, head, or internal organs. A physical exam can help your doctor search for signs of these symptoms. During the exam, your doctor will also ask questions about your family and medical history and look for signs of swelling, varicose veins and port-wine stains.

Other tests that may assist in confirming the disease include:

  • Duplex ultrasonography

This test uses high-frequency sound waves to create detailed images of blood vessels.

  • Scanogram

This test is also called scanner photography. It is an X-ray technique that helps to see images of bones and measure their lengths.

  • MRI and magnetic resonance angiography (MRA)

These procedures help differentiate between bone, fat, muscle and blood vessels.

  • CT scan

A CT scan creates 3-D images of the body that helps look for blood clots in veins.

  • Contrast venography

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

Treatment

Treatment options that can be chosen to help reduce symptoms and prevent complications include:

  • Physical therapy

Massage, compression and limb movement as appropriate may help relieve lymphedema in arms or legs and swelling of the blood vessels.

  • 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 treat symptomatic complex vascular malformations, but it may have significant side effects and more studies are needed.

  • Compression therapy

Bandages or elastic garments are wrapped around affected limbs to help prevent swelling, problems with varicose veins and skin ulcers.

  • Epiphysiodesis

This surgical procedure can stop length overgrowth of the lower limb effectively.

  • Laser therapy

This procedure is to lighten port-wine stains and to treat early blebs on the skin.

  • Laser or radiofrequency ablation of veins

This procedure is minimally invasive and can be used to close off abnormal veins.

  • Sclerotherapy

In this procedure, a solution is injected into a vein, which creates scar tissue that helps close the vein.


Keywords: Klippel-Trenaunay syndrome (KTS); KTS; Klippel–Trénaunay–Weber syndrome; angio-osteohypertrophy syndrome; congenital dysplastic angiopathy.

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.