| Alternative Names:
|
| Hereditary hemorrhagic telangiectasia |
| 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
|
| 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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