Hereditary hemorrhagic telangiectasia; HHT

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.

Sym,ptoms of this syndrome include:

• Frequent nosebleeds in children
• GI bleeding, including loss of blood in the stool or dark black stools
• Port wine stain
• Seizures or unexplained, small strokes (from bleeding into the brain)
• Shortness of breath

An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.

Signs include:

• Abnormal blood vessels that bleed easily in the throat, bowels, or airways
• AVM seen on chest x-ray
• Decreased oxygen levels in the blood
• Heart failure
• Hepatomegaly
• Iron deficiency anemia

Tests include:

• Blood gas tests
• Blood tests
• Echocardiogram
• Endoscopy

Genetic testing may be available to look for changes in genes associated with this syndrome.

Images

Circulatory system

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Review Date: 05/15/2011
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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)