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Alpha-1 antitrypsin deficiency — SCE Respiratory MCQ

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ModerateCOPDAlpha-1 antitrypsin deficiencySCE Respiratory

A 46-year-old never-smoker has progressive breathlessness and basal panacinar emphysema on CT. His father died of liver disease aged 52. Spirometry shows obstruction with FEV1 48% predicted and TLCO 38% predicted. What is the most likely underlying cause?

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Correct answer: B — Alpha-1 antitrypsin deficiency

Early-onset basal panacinar emphysema with a family history of liver disease strongly suggests alpha-1 antitrypsin deficiency. Langerhans cell histiocytosis is typically smoking-related and upper-lobe predominant with nodules and irregular cysts. Chronic HP may reduce TLCO but would not usually cause basal panacinar emphysema in a never-smoker.

Reference: NICE NG115; ATS/ERS Alpha-1 Antitrypsin Deficiency Statement