Respiratory medicine: alpha-1 antitrypsin deficiency: practice question

A General Medicine question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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General Medicine · Respiratory medicine: alpha-1 antitrypsin deficiency

Sample item

A 35-year-old lifelong non-smoker has progressive exertional dyspnoea. Chest radiograph shows hyperinflation with lucency predominantly at the lung bases, and spirometry shows an obstructive pattern with poor bronchodilator reversibility. Liver enzymes are mildly raised. Which investigation is most appropriate next?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. Serum alpha-1 antitrypsin level

Early-onset emphysema in a non-smoker with basal-predominant panacinar change and liver involvement suggests alpha-1 antitrypsin deficiency, commonly the PiZZ genotype. The unopposed neutrophil elastase destroys alveolar walls, and retained abnormal protein injures hepatocytes. Screening is by serum level, followed by phenotyping or genotyping, and guidelines advise testing all patients with COPD.

Option by option

  • A. Serum alpha-1 antitrypsin level (correct)

    Correct. A low serum level screens for the deficiency that explains basal panacinar emphysema with liver disease.

  • B. Sputum for acid-fast bacilli

    Sputum AFB tests for tuberculosis, which usually causes upper-zone disease with constitutional symptoms.

  • C. Sweat chloride test

    Sweat chloride tests for cystic fibrosis, which presents with bronchiectasis and malabsorption rather than basal emphysema.

  • D. Serum angiotensin-converting enzyme level

    A raised ACE level supports sarcoidosis, which gives restrictive disease and hilar nodes, not basal emphysema.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this General Medicine question

What is the answer to this General Medicine question?

The best answer is A, Serum alpha-1 antitrypsin level. Early-onset emphysema in a non-smoker with basal-predominant panacinar change and liver involvement suggests alpha-1 antitrypsin deficiency, commonly the PiZZ genotype.

Why is "Sputum for acid-fast bacilli" not the answer?

Sputum AFB tests for tuberculosis, which usually causes upper-zone disease with constitutional symptoms.

Why is "Sweat chloride test" not the answer?

Sweat chloride tests for cystic fibrosis, which presents with bronchiectasis and malabsorption rather than basal emphysema.

Why is "Serum angiotensin-converting enzyme level" not the answer?

A raised ACE level supports sarcoidosis, which gives restrictive disease and hilar nodes, not basal emphysema.

What concept does this question test?

It tests Respiratory medicine: alpha-1 antitrypsin deficiency in General Medicine. The unopposed neutrophil elastase destroys alveolar walls, and retained abnormal protein injures hepatocytes. Screening is by serum level, followed by phenotyping or genotyping, and guidelines advise testing all patients with COPD.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Respiratory medicine: alpha-1 antitrypsin deficiency?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.