Osler-Weber-Rendu syndrome

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Circulatory system

Hereditary hemorrhagic telangiectasia

• 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

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: 04/20/2005
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.