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

JKC Yoong, MM Htoo, V Jeyaseelan, DCC Ng
Correspondence: Dr Jon K C Yoong, jon.yoong.k.c@singhealth.com.sg

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.

Keywords: amaurosis fugax, arteriovenous malformations, hereditary haemorrhagic telangiectasia, Osler-Weber-Rendu syndrome
Singapore Med J 2004; 45(7): 334-336