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Alpha-1 antitrypsin deficiency — SCE Respiratory MCQ

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HardCOPDAlpha-1 antitrypsin deficiencySCE Respiratory

A 51-year-old man presents with exertional dyspnoea and basal-predominant emphysema on CT. He smoked five cigarettes daily for four years in his twenties and has abnormal liver enzymes. Spirometry shows FEV1 48% predicted and FEV1/FVC 0.54; TLCO is 42% predicted. His father died of cirrhosis in his fifties. What is the most likely underlying cause?

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Correct answer: C — Alpha-1 antitrypsin deficiency

Early emphysema with a light smoking history, basal predominance and liver disease strongly suggests alpha-1 antitrypsin deficiency. Smoking-related emphysema is plausible but the distribution and family liver history make it less likely. Testing is important because it affects family screening and smoking-avoidance counselling.

Reference: NICE NG115 COPD; BTS/SIGN respiratory genetics resources