Osler-Weber-Rendu Syndrome
Alternate Names : Hereditary Hemorrhagic Telangiectasia
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Diagnosis & 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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