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Osler-Weber-Rendu syndrome

Alternative names:

hereditary hemorrhagic telangiectasia

Definition:

An inherited disorder of the blood vessels, which may lead to episodes of massive hemorrhaging.

Causes, incidence, and risk factors:

Hereditary hemorrhagic telangiectasia, also known as HHT or Osler-Weber-Rendu syndrome, is inherited as an autosomal dominant trait. Affected children develop red or reddish purple telangiectasia (spider-like, macular or papular spots) on the lips and tongue and the nasal mucosa. Other areas such as the face and ears may be involved and internal vascular abnormalities can occur in the brain, throat and larynx, gastrointestinal tract, liver, bladder, and vagina.

Frequent nosebleeds in children may be an early sign but the easily visible characteristic vascular lesions (telangiectasia) on the tongue and lips may not appear until puberty. The telangiectasia bleed easily. Bleeding into the head (brain hemorrhage) may cause varied neurological symptoms such as seizures and if severe may be fatal.


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