Hereditary hemorrhagic telangiectasia (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor-in-Chief: Alexandra M. Palmer

Overview

Hereditary hemorrhagic telangiectasia, also called Osler-Weber-Rendu Syndrome, is an inherited disorder of the blood vessels that can cause excessive bleeding.

What are the symptoms of Hereditary hemorrhagic telangiectasia?

What causes Hereditary hemorrhagic telangiectasia?

Hereditary hemorrhagic telangiectasia 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.

Who is at risk for Hereditary hemorrhagic telangiectasia?

This is a genetic disorder, so people at risk are those who have a family history of hereditary hemorrhagic telangiectasia.

How do I know I have Hereditary hemorrhagic telangiectasia?

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 for changes (mutations) in the endoglin or ALK1 genes.

When to seek urgent medical care

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

Treatment options

Treatments include:

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.

Where to find medical care for Hereditary hemorrhagic telangiectasia

Directions to Hospitals Treating Hereditary hemorrhagic telangiectasia

Prevention of Hereditary hemorrhagic telangiectasia

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.

What to expect (Outlook/Prognosis)

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

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm


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