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Osler-Weber-Rendu syndrome

Definition

Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.

Alternative Names

Hereditary hemorrhagic telangiectasia; HHT

Causes, incidence, and risk factors

Osler-Weber-Rendu syndrome is a condition passed down through families. It results from a problem in one of a few genes. Scientists have identified some of the genes involved. However, they do not know exactly how the gene defects lead to problems seen in persons with this syndrome.

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Symptoms

People with Osler-Weber-Rendu syndrome can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body.

If they are on the skin, they are called telangiectasias. The abnormal blood vessels can also develop in the brain, lungs, liver, intestines, or other areas.

Symptoms of this syndrome include:

Signs and tests

An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia .

Signs include:

Tests include:

Genetic testing may be available to look for changes in genes associated with this syndrome.

Treatment

Treatments include:

  • Surgery to treat bleeding in some areas
  • or laser surgery to treat frequent or heavy nosebleedsElectrocautery
  • to treat abnormal blood vessels in the brain and other parts of the bodyEndovascular embolization

Some patients respond to estrogen therapy, which can reduce bleeding episodes. Avoid taking blood-thinning medications.

Some patients may need to take antibiotics before having dental work or surgery. Ask your doctor what precautions you should take.

Support Groups

HHT Foundation International -- www.hht.org

Expectations (prognosis)

People with this syndrome can live a completely normal lifespan, depending on the parts of the body where the AVMs are located.

Complications

Calling your health care provider

Call your health care provider if your child has frequent nose bleeds or other signs of this disease.

Prevention

Genetic counseling is recommended for couples who want to have children and who have a family history of hereditary hemorrhagic telangiectasia. Medical treatments can prevent certain types of strokes and heart failure.

References

Azuma H: Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. . 2000 Aug; 47(3-4): 81-90.

Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA: Screening in hereditary hemorrhagic telangiectasia patients. . 2000 Aug; 118(2): 566-7.

Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. . 2009 Apr 1. [Epub ahead of print]

Encyclopedia content is provided as information only and not intended to replace the advice and instruction from your personal physician.