Hereditary hemorrhagic telangiectasia (Osler Weber Rendu syndrome)


Description

An inherited disease of blood vessels which causes excessive bleeding. Patients develop red or reddish-purple collections of abnormal blood vessels called telangiectasias or arterio-venous malformations (AVMs). Patients experience bleeding episodes from the nose, gastrointestinal tract and the brain.

Symptoms

Nosebleeds, vomiting blood, rectal bleeding, discoloration of the skin, headaches, seizures, confusion.

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical exam will be performed. Genetic testing can be performed.

Specialists:
Blood and Cancer Care (hematology and oncology), Pediatric Hematology and Oncology

Treatment

Estrogen may decrease the number of telangiectasias. Bleeding is stopped with cautery, but in severe cases, surgery or embolization of the artery may be recommended.
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