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Pulmonary arteriovenous malformations — SCE Respiratory MCQ

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HardPulmonary Vascular DiseasePulmonary arteriovenous malformationsSCE Respiratory

A 25-year-old woman has recurrent epistaxis, exertional dyspnoea and cyanosis. CT pulmonary angiography shows multiple pulmonary arteriovenous malformations. Her mother has similar nosebleeds. What is the most likely underlying cause?

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Correct answer: D — Hereditary haemorrhagic telangiectasia

Recurrent epistaxis, family history and pulmonary AVMs are typical of hereditary haemorrhagic telangiectasia. Granulomatosis with polyangiitis can cause epistaxis and lung disease but not usually multiple AVMs with familial telangiectatic bleeding. Alpha-1 antitrypsin deficiency and CF do not cause pulmonary AVMs.

Reference: British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations; ERS HHT Guidance