Hereditary haemorrhagic telangiectasia with pulmonary arteriovenous malformations: a treatable cause of thromboembolic cerebral events
Yoong, J.K.C.; Htoo, M.M.; Jeyaseelan, V.; Ng, D.C.C.
Singapore Medical Journal 45(7): 334-336
2004
ISSN/ISBN: 0037-5675 PMID: 15221050 Document Number: 568497
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.