Osler-Weber-Rendu syndrome
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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

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:

Exams 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
  • Electrocautery or laser surgery to treat frequent or heavy nosebleeds
  • Endovascular embolization to treat abnormal blood vessels in the brain and other parts of the body

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

Outlook (Prognosis)

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

Possible Complications

When to Contact a Medical Professional

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. J Med Invest. 2000 Aug; 47(3-4): 81-90.

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

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


Review Date: 5/15/2011
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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