PMID: 15221050Jun 29, 2004Paper

Hereditary haemorrhagic telangiectasia with pulmonary arteriovenous malformations: a treatable cause of thromboembolic cerebral events

Singapore Medical Journal
J K C YoongD C C Ng

Abstract

Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is associated with mucocutaneous telangiectases and iron deficiency anaemia caused by epistaxis or blood loss from the gastrointestinal tract. We describe a 41-year-old Chinese man who presented with amaurosis fugax secondary to emboli from pulmonary arteriovenous malformations associated with HHT. He was diagnosed with the disorder in adolescence but follow-up in the outpatient setting was incomplete. Early screening and regular follow-up of patients with HHT are important to minimise the risk of development of serious sequelae, such as thromboembolic strokes and cerebral abscesses. Appropriate management demands a knowledge of the risks and benefits of asymptomatic screening and treatment in the rapidly-evolving evidence base for this disease.

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