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Alpha-1 antitrypsin deficiency — SCE Respiratory MCQ

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ModerateCOPDAlpha-1 antitrypsin deficiencySCE Respiratory

A 44-year-old never-smoker has basal panacinar emphysema on CT, airflow obstruction and a family history of liver disease. His father died of cirrhosis aged 52. What is the most likely underlying cause?

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Correct answer: B — Alpha-1 antitrypsin deficiency

Early-onset basal panacinar emphysema in a non-smoker with familial liver disease is highly suggestive of alpha-1 antitrypsin deficiency. Biomass exposure usually causes COPD after significant exposure and lacks the liver clue. CFTR disease can cause bronchiectasis and obstructive disease but the emphysema distribution and cirrhosis pattern point more strongly to alpha-1 antitrypsin deficiency.

Reference: NICE NG115 COPD; ERS Statement on Alpha-1 Antitrypsin Deficiency