Klippel-Trenaunay syndrome is a malformation found at birth (congenital) involving abnormal development of blood vessels, soft tissues and bones. People who have Klippel-Trenaunay syndrome may have the following features:

  • Reddish-purple birthmarks called port-wine stains or capillary malformations
  • Larger and longer extremities due to bone and soft tissue overgrowth that occurs most often in one of the lower limbs
  • Varicose veins

Resources

Below is a helpful Internet resource on Klippel-Trenaunay syndrome. Mayo Clinic neither owns nor controls this site and is not responsible for its content. Inclusion of this site does not imply endorsement by Mayo Clinic.

Klippel-Trenaunay Support Group

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Doctors at the Vascular Malformation Clinic at Mayo Clinic in Arizona work with doctors specializing in vascular medicine, skin diseases (dermatology), internal medicine, vascular surgery, orthopedic surgery, plastic surgery, diagnostic and therapeutic radiology, heart (cardiovascular) diseases, colorectal surgery, urinary tract conditions (urology), psychology, and physical therapy to diagnose and treat people with Klippel-Trenaunay syndrome.

For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.

Doctors at the Vascular Center at Mayo Clinic in Florida work with specialists in vascular surgery and endovascular therapy, skin diseases (dermatology), internal medicine, orthopedic surgery, plastic surgery, diagnostic and therapeutic (interventional) radiology, heart (cardiovascular) diseases, colorectal surgery, urinary tract conditions (urology), psychology, and physical therapy to diagnose and treat people with Klippel-Trenaunay syndrome.

For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.

The Vascular Malformation Clinic brings together doctors who specialize in pediatric cardiology, vascular and endovascular surgery, orthopedic surgery, vascular medicine, skin diseases (dermatology), pediatrics, internal medicine, plastic surgery, diagnostic and therapeutic (interventional) radiology, heart (cardiovascular) diseases, colorectal surgery, urinary tract conditions (urology), psychology, and physical therapy to evaluate and treat Klippel-Trenaunay syndrome.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.

Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam in which your doctor:

  • Asks you questions about your family and medical history
  • Visually examines you for varicose veins and blood vessels that cause reddish-purple skin discoloration (port-wine stains)
  • Visually evaluates growth of your bones and soft tissues

Several diagnostic tests can help your doctor evaluate blood flow and determine the type and severity of your condition:

  • Duplex scanning. This test uses high-frequency sound waves to create detailed images of your blood vessels.
  • X-rays. An X-ray image helps your doctor see your bones and measure their length.
  • Magnetic resonance angiography. This procedure helps your doctor differentiate between bone, fat, muscle and blood vessels.
  • CT scan. A CT scan creates 3-D images of your body that help your doctor look for blood clots in veins.
  • Contrast venography. This procedure involves injecting a dye into your veins and taking X-rays that can reveal abnormal veins, blockages or blood clots.

There is no cure for Klippel-Trenaunay syndrome. Standard treatment for Klippel-Trenaunay syndrome at Mayo Clinic involves helping you to manage your symptoms and preventing complications. You and your doctor work together to determine which of the following treatments are most appropriate for you:

  • Compression therapy. Bandages or elastic garments are wrapped around affected limbs to help prevent swelling, varicose veins and skin ulcers.
  • Lifestyle management. Orthopedic shoes, antibiotics for infections and wearing compression dressings may improve your health and physical function.
  • Physical therapy. Massage and compression may help relieve swelling in your arms or legs (lymphedema) and swelling of the blood vessels.
  • Epiphysiodesis. This is an orthopedic procedure that effectively can stop 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 lighten or eliminate port-wine stains on your skin.
  • Laser or radiofrequency ablation of veins. This minimally invasive procedure is used to close off abnormal veins.
  • Sclerotherapy. Your doctor injects a solution into your vein, which creates scar tissue that helps close the vein.
  • Placement of a vena cava filter. This procedure prevents blood clots from traveling to your lungs.
  • Surgery. In some cases, you may benefit from removal or reconstruction of your affected veins.

Mayo Clinic researchers study the possible causes and genetics of Klippel-Trenaunay syndrome. Although the exact cause of Klippel-Trenaunay syndrome is unknown, studies suggest that it may be inherited. Genetic studies at Mayo Clinic provide more information about gene mutations seen in people who have Klippel-Trenaunay syndrome.

Publications

See a list of publications by Mayo Clinic authors on Klippel-Trenaunay syndrome on PubMed, a service of the National Library of Medicine.

Nov. 19, 2012