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Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

INTRODUCTION

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome), an autosomal dominant vascular disorder, has a variety of clinical manifestations. Among the most common are epistaxis, gastrointestinal bleeding, and iron deficiency anemia, along with characteristic mucocutaneous telangiectasia. In addition, arteriovenous malformations (AVMs) commonly occur in the pulmonary, hepatic, and cerebral circulations, demanding knowledge of the risks and benefits of screening and treatment of patients with these complications.

The pathophysiology, diagnosis, and management of HHT will be reviewed here. Issues related to pulmonary arteriovenous malformations, which affect >50 percent of individuals with HHT, are discussed separately.

(See "Pulmonary arteriovenous malformations: Epidemiology, etiology, pathology, and clinical features".)

(See "Pulmonary arteriovenous malformations: Diagnostic evaluation".)

(See "Pulmonary arteriovenous malformations: Treatment".)

                                                 

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Literature review current through: Mar 2014. | This topic last updated: Feb 4, 2014.
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