Osler-Weber-Rendu syndrome
Alternate Names : Hereditary hemorrhagic telangiectasia, HHT
Symptoms & Signs
- 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
- Telangiectases on the tongue, lips, nasal mucosa, face, ears, fingertips, nails, whites of the eyes, and skin (they may bleed easily)
Diagnosis & Tests
An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia. Signs include: Tests include: Genetic testing may be available for changes (mutations) in the endoglin or ALK1 genes.
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