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Alpha-1 Antitrypsin Deficiency — RACP Adult Medicine MCQ

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ModerateRespiratoryAlpha-1 Antitrypsin DeficiencyRACP Adult Medicine

A 40-year-old woman with COPD diagnosed at age 35 has FEV₁ 42% predicted. She has never smoked. She has a family history of early-onset COPD (father had emphysema at age 40). CT shows panlobular emphysema with basal predominance and hepatomegaly. What investigation should be performed?

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Correct answer: D — Alpha-1 antitrypsin level and phenotyping

Early-onset COPD (<45 years), never-smoker, panlobular emphysema with basal predominance, hepatomegaly, and family history of early emphysema is alpha-1 antitrypsin deficiency. Hepatomegaly reflects AAT polymer accumulation in hepatocytes. All COPD patients diagnosed before age 45 (some guidelines say all COPD patients) should be tested. Treatment: augmentation therapy (IV AAT), smoking cessation (if applicable), standard COPD management. Lung transplant for severe disease.

Reference: COPD-X 2024; ATS/ERS 2024 AAT Deficiency