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Alternative Names Return to topHereditary hemorrhagic telangiectasia; HHT
Definition Return to top
Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.
Causes Return to top
Osler-Weber-Rendu syndrome is an inherited condition. It can affect males or females of any ethnic or racial group.
People with this condition 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 AVMs can also develop in other areas of the body, such as the brain, lungs, liver, or intestines.
The syndrome is genetic, which means it results from an abnormality 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 the abnormal blood vessels seen in persons with this syndrome.
Symptoms Return to top
Exams and Tests Return to top
An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.
Genetic testing may be available for changes (mutations) in the endoglin or ALK1 genes.
Treatment Return to top
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 Return to top
HHT Foundation International -- www.hht.org
Outlook (Prognosis) Return to top
People with this syndrome can live a completely normal lifespan, depending on the parts of the body where the AVMs are located.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if your child has frequent nose bleeds or other signs of this disease.
Prevention Return to top
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 Return to top
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]Update Date: 4/15/2009 Updated 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.