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Osler-Weber-Rendu syndrome

  • Alternative Names

    Hereditary hemorrhagic telangiectasia; HHT


    Symptoms

    People with Osler-Weber-Rendu syndrome can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body.

    If they are on the skin, they are called telangiectasias. The abnormal blood vessels can also develop in the brain, lungs, liver, intestines, or other areas.

    Sym,ptoms of this syndrome include:

    • 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

    Signs and 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:

    • Abnormal blood vessels that bleed easily in the throat, bowels, or airways
    • AVM seen on chest x-ray
    • Decreased oxygen levels in the blood
    • Heart failure
    • Hepatomegaly
    • Iron deficiency anemia

    Tests include:

    • Blood gas tests
    • Blood tests
    • Echocardiogram
    • Endoscopy

    Genetic testing may be available to look for changes in genes associated with this syndrome.