Osler-Weber-Rendu syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Circulatory system

Overview

Symptoms

Treatment

Prevention

Osler-Weber-Rendu syndrome

Alternative Names:

Hereditary hemorrhagic telangiectasia

Symptoms:

Frequent nosebleeds in a child
GI bleeding -- loss of blood in stool or dark black stool (melena)
Shortness of breath
The appearance of vascular lesions (telangiectases) during late childhood or early adolescence on the:
- Tongue
- Lips
- Whites of the eyes
- Ears
- Finger tips and nail beds
- Skin
Coughing up blood, passing blood in the stool or unusually dark stool
Port wine stain (occasionally present)
Unexplained or multiple small strokes

Signs and tests:

An experienced physician can find telangiectases on physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.

Other signs include:

Chest x-ray may show a "spot on the lung" (arteriovenous malformation)
Echocardiogram may show high-output heart failure
Iron deficiency anemia may result from repeated blood loss
Specialized blood gas tests may show decreased levels of oxygen in blood
Endoscopy may show numerous abnormal blood vessels that bleed easily (arteriovenous malformations) lining the throat, bowels, or airways
Hepatomegaly
Genetic testing may be available for mutations in the endoglin or ALK1 genes

Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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