Question

A 35-year-old woman with a long history of dyspnea, chronic cough, sputum production, and wheezing dies of respiratory failure following a bout of lobar pneumonia. She was not a smoker or an alcoholic. The lung autopsy is shown in the image. Which of the following underlying conditions was most likely associated with the pathologic changes shown here?

• A. Mutation in dynein arms
• B. Cystic fibrosis
• C. Alpha-1 antitrypsin deficiency
• D. Antibodies against type 4 collagen

Hint:

Emphysema in a young non-smoker points to a missing protease inhibitor.

Answer 1

The Correct Option is C

Step 1: The key clue is emphysema (irreversible enlargement of airspaces distal to the terminal bronchiole) in a young, non-smoking, non-alcoholic woman. Emphysema without a smoking history demands a hereditary cause.

Step 2: The autopsy shows panacinar emphysema, the pattern typical of alpha-1 antitrypsin deficiency. Alpha-1 antitrypsin normally inhibits neutrophil proteases (mainly elastase). When it is deficient, unopposed elastase destroys alveolar elastic tissue, producing early panacinar emphysema, classically basal-predominant.

Step 3: The distractors do not fit a pure emphysema picture in a non-smoker: dynein arm mutation causes primary ciliary dyskinesia (bronchiectasis, situs inversus), cystic fibrosis causes thick-mucus bronchiectasis, and anti-type-IV-collagen antibodies cause Goodpasture (a pulmonary-renal hemorrhage syndrome). The matching cause is alpha-1 antitrypsin deficiency.

Ref: Robbins Basic Pathology.