Hereditary haemorrhagic telangiectasia with pulmonary arteriovenous malformations: a treatable cause of thromboembolic cerebral events.
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.
Yoong
J K C
JK
Department of Internal Medicine, Singapore General Hospital, Outram Road, Singapore 169608. jon.yoong.k.c@singhealth.com.sg
Htoo
M M
MM
Jeyaseelan
V
V
Ng
D C C
DC
D000328:Adult; D020757:Amaurosis Fugax / Q000209:etiology; D001165:Arteriovenous Malformations / Q000150:complications* / Q000628:therapy; D004621:Embolization, Therapeutic; D006801:Humans; D020766:Intracranial Embolism / Q000209:etiology* / Q000517:prevention & control; D020767:Intracranial Thrombosis / Q000209:etiology* / Q000517:prevention & control; D008297:Male; D011651:Pulmonary Artery / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*; D020521:Stroke / Q000209:etiology / Q000517:prevention & control; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*