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COPD — SCE Respiratory MCQ

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HardRespiratory MedicineCOPDSCE Respiratory

A 42-year-old never-smoker has basal panacinar emphysema. Serum alpha-1 antitrypsin is low. Which test is required before discussing augmentation or family screening?

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Correct answer: B — Confirmatory alpha-1 antitrypsin genotyping

A low alpha-1 antitrypsin concentration requires phenotypic or genotypic confirmation because acute inflammation, laboratory thresholds and rare variants complicate interpretation. Confirming the pathogenic genotype guides specialist counselling, testing of relatives and consideration of targeted therapy; smoking avoidance remains essential.

Reference: https://www.brit-thoracic.org.uk/quality-improvement/guidelines/