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Alpha-1 antitrypsin deficiency — SCE Respiratory MCQ

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ModerateCOPDAlpha-1 antitrypsin deficiencySCE Respiratory

A 58-year-old man with emphysema has disproportionate basal panlobular changes on CT and airflow obstruction despite a 6 pack-year smoking history. His sister required liver transplantation aged 45. Liver enzymes are mildly raised and TLCO is 42% predicted. What is the most likely underlying cause?

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Correct answer: B — Alpha-1 antitrypsin deficiency

The best answer is “Alpha-1 antitrypsin deficiency”. The clinical pattern, physiology and imaging described are most consistent with Alpha-1 antitrypsin deficiency. The competing diagnoses may share individual findings, but do not account for the complete combination in the stem. The remaining choices—“Smoking-related respiratory bronchiolitis”, “Primary ciliary dyskinesia”, “Combined pulmonary fibrosis and emphysema”, “Chronic hypersensitivity pneumonitis”—are credible in related respiratory presentations, but each addresses a different diagnostic, staging or management decision and does not fit the decisive findings and pathway position in this stem.

Reference: NICE NG115 chronic obstructive pulmonary disease: https://www.nice.org.uk/guidance/ng115/chapter/Recommendations