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Osler-Weber-Rendu syndrome

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 several genes. Scientists have identified some of the genes involved. They do not know exactly how the gene defects lead to problems seen in persons with this syndrome, but it involves proper development of blood vessels.

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 is available to look for changes in genes associated with this syndrome.

Treatment

Treatments may 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. Iron may also be given if there is a lot of blood loss leading to anemia. Some drugs that affect blood vessel development are being studied as possible future treatments.

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

  • Heart failure
  • High blood pressure in the lungs (pulmonary hypertension )
  • Internal bleeding
  • Shortness of breath

When to Contact a Medical Professional

Call your health care provider if you or 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

McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011 Jul;13(7):607-16.

Updated: 5/7/2013

Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


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