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

Singapore Med J. 2004 Jul;45(7):334-6.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amaurosis Fugax / etiology
  • Arteriovenous Malformations / complications*
  • Arteriovenous Malformations / therapy
  • Embolization, Therapeutic
  • Humans
  • Intracranial Embolism / etiology*
  • Intracranial Embolism / prevention & control
  • Intracranial Thrombosis / etiology*
  • Intracranial Thrombosis / prevention & control
  • Male
  • Pulmonary Artery / abnormalities*
  • Pulmonary Veins / abnormalities*
  • Stroke / etiology
  • Stroke / prevention & control
  • Telangiectasia, Hereditary Hemorrhagic / complications*