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Osler-Weber-Rendu syndrome Causes and Risks:
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.
Prevention:
Genetic counseling is recommended for prospective parents with a family history of hereditary hemorrhagic telangiectasia.
Symptoms:
Signs and Tests:
The lesions are usually visible in a routine physical examination . There is often a family history of hereditary hemorrhagic telangiectasia.
Other signs include:
Treatment:
Bleeding in vital areas must be corrected surgically. Frequent or heavy nosebleeds ( epistaxis ) may be treated with electrocautery or laser.
Prognosis:
Barring a fatal intracranial hemorrhage , this syndrome is compatible with a normal lifespan.
Complications:
Call Your Healthcare Provider:
Call your health care provider if your child has frequent nose bleeds or other signs of this disease.
Hereditary hemorrhagic telangiectasia is another name for Osler-Weber-Rendu syndrome. This disorder can lead to episodes of massive bleeding. In this picture we see the bleeding that has taken place under and around the fingernail, as well as other lesions around the hand.
Osler-Weber-Rendu disease, or hereditary hemorrhagic telangiectasia, is an inherited disorder. It is characterized by multiple blood vessels that are close to the surface of the skin. Bleeding often occurs from sensitive areas. In this picture, large blood vessels (telangiectasias) can be seen on the lower abdomen.
Osler-Weber-Rendu disease, or hereditary hemorrhagic telangiectasia, is an inherited disorder. It is characterized by multiple blood vessels close to the surface of the skin and bleeding from sensitive areas. In this picture, blood vessels (telangiectasias) can be seen on the upper lip.
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