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Osler-Weber-Rendu syndrome

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Definition:

Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels, which can cause excessive bleeding. The syndrome is also called hereditary hemorrhagic telangiectasia, or HHT.

Alternative Names:

Hereditary hemorrhagic telangiectasia

Causes, incidence, and risk factors:

Osler-Weber-Rendu syndrome is inherited as an autosomal dominant trait. The condition can affect males or females of any ethnic or racial group.

Children with this syndrome develop red or reddish-purple collections of abnormal blood vessels called telangiectases.

The syndrome is genetic, which means it results from a broken or missing gene. Scientists have identified some of the genes involved, but do not know exactly how the gene defects lead to the abnormal blood vessels seen in persons with this syndrome.

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.

• Review Date: 5/16/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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