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Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

Author
Claire Shovlin, PhD, FRCP
Section Editor
Lawrence LK Leung, MD
Deputy Editor
Jennifer S Tirnauer, MD

INTRODUCTION

Hereditary hemorrhagic telangiectasia (HHT; also called Osler-Weber-Rendu syndrome) is an autosomal dominant vascular disorder with 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, epidemiology, and diagnosis of HHT will be reviewed here. The management of HHT is discussed in detail separately. (See "Management of hereditary hemorrhagic telangiectasia".)

Additional discussions of pulmonary AVMs, which affect over half of individuals with HHT, are also discussed separately. (See "Pulmonary arteriovenous malformations: Epidemiology, etiology, and pathology in adults" and "Pulmonary arteriovenous malformations: Clinical features and diagnostic evaluation in adults" and "Therapeutic approach to adult patients with pulmonary arteriovenous malformations".)

DISEASE OVERVIEW

The combination of epistaxis, gastrointestinal bleeding, and iron deficiency anemia associated with characteristic telangiectasia on the lips, oral mucosa, and fingertips (picture 1) has become firmly established as a medical entity. However, this constellation of findings underestimates the other, potentially life-threatening aspects of this disorder. It is now recognized that at least half of HHT patients have pulmonary involvement [1-3], more than one-third have hepatic involvement [4,5], and approximately 10 percent have cerebral involvement [1,6,7].

Individuals with HHT present to a wide range of clinicians spanning medical, surgical, general practice disciplines, and emergency departments, many of whom lack appreciation of the full range of consequences of the diagnosis of HHT for patients and their families [8].

                             
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Literature review current through: Nov 2017. | This topic last updated: Sep 29, 2017.
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