Diagnosis

Diagnosis at Mayo Clinic

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

  • Asks you questions about your family and medical history
  • Examines you for swelling, varicose veins and port-wine stains
  • Visually evaluates growth of your bones and soft tissues

Several diagnostic tests can help your doctor evaluate 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.
  • Scanogram. Also called scanner photography, this X-ray technique helps your doctor see images of your bones and measure their lengths.
  • 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.

Treatment

Treatment at Mayo Clinic

Although there is no cure for Klippel-Trenaunay syndrome, Mayo Clinic experts can help you manage your symptoms and prevent complications. You and your doctor can 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. Intermittent pneumatic compression devices — leg or arm sleeves that automatically inflate and deflate at set intervals — may be used.
  • Lifestyle management. Orthopedic shoes may improve your health and physical function.
  • Physical therapy. Massage, compression and encouraging use of the limb as appropriate may help relieve swelling in your arms or legs (lymphedema) and swelling of the blood vessels.
  • Epiphysiodesis (ep-ih-fiz-e-OD-uh-sis). 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 and correction of the overgrowth of bone.

In addition, you may need treatment for complications such as bleeding, infection, blood clots or skin ulcers.

Early research indicates that a drug called sirolimus may help prevent the growth of vascular malformations, but it may have significant side effects and more studies are needed.

Klippel-Trenaunay syndrome care at Mayo Clinic

Sept. 17, 2015
References
  1. Klippel-Trenaunay syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome. Accessed July 24, 2015.
  2. Klippel-Trenaunay syndrome. National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/klippel-trenaunay-syndrome/. Accessed July 27, 2015.
  3. Malgor RD, et al. Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome. Phlebology. In press. http://phl.sagepub.com/content/early/2015/03/17/0268355515577322.abstract. Accessed July 27 2015.
  4. Sharma D, et al. Klippel-Trenaunay syndrome — A very rare and interesting syndrome. Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine. 2015;9:1.
  5. NINDS Klippel-Trenaunay syndrome (KTS) information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/klippel_trenaunay/klippel_trenaunay.htm. Accessed July 27, 2015.
  6. AskMayoExpert. Klippel-Trenaunay syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2014.
  7. Colletti G, et al. Adjuvant role of anti-angiogenic drugs in the management of head and neck arteriovenous malformations. Medical Hypotheses. 2015;85:298.
  8. Gloviczki P (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 16, 2015.
  9. Driscoll DJ (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 26, 2015.