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Osler-Weber-Rendu syndrome |
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| Alternative Names: | Hereditary hemorrhagic telangiectasia
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| Symptoms: | - frequent nosebleeds in a child
- GI bleeding -- i.e., 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
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| 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
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Review Date: 8/6/2003
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2003 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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