Vascular whispers and anaemia: Unravelling hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of abnormal vessel formation. The hallmarks of this disease are vascular lesions mainly arteriovenous malformations and telangiectasia involving mucocutaneous surfaces like skin and gastrointestinal tract. Anaemia, though an important clinical manifestation, is often missed as a diagnostic clue. We report the case history of a middle aged man who presented to multiple centres with symptomatic anaemia, suffered a stroke and underwent intervention for a pulmonary arteriovenous malformation before a diagnosis of HHT was eventually established.