Platypnoea, clubbing, and epistaxis in a 61-year-old man

Mutations in genes that modulate signalling by transforming growth factor β lead to aberrant vasculogenesis.1 Manifestations generally present in early adulthood; recurrent epistaxis is the earliest and most common symptom and can cause iron-deficiency anaemia, as in our patient.2 Telangiectases and arteriovenous malformations can also occur in the pulmonary, gastrointestinal, and hepatic vasculature. Chest CT is confirmatory.2 Endoscopy is needed to exclude gastrointestinal arterio venous malformations,2 and doppler ultrasonography or abdominal CT is used to seek malformations in the liver.2 Cerebral malformations are usually clinically silent but can cause seizures and haemorrhage; contrast MRI is a safe method of screening for these malformations.2 Angiography is the goldstandard test to diagnose any arteriovenous malformation.