THIRD EDITION
Factsheet
Condition:
Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber syndrome)
Inheritance:
Autosomal dominant
Genetic Etiology:
Mutation either in ACVRL1 gene encoding serine/threonine-protein kinase receptor R3 or ENG encoding endoglin. Most mutations result in loss of function alleles.
Frequency:
Approximately 1/10,000
Clinical features:
Affected individuals develop multiple arteriovenous malformations on skin, mucous membranes, and in deeper tissues. Clinically this may present with nose bleeds or GI bleeding. Telangiectasias are visible on the skin and mucous membranes. AV fistulas can occur in the lung and lead hypoxemia, or to stroke or brain abscess.
Management:
Monitoring for major complications, especially pulmonary AVMs; supportive care.
Genetic counseling:
Transmitted as dominant traits; genetic testing is available.