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 nonsmoker in their 30s has panacinar emphysema predominantly affecting the lower lobes and abnormal liver enzymes. What inherited disorder is most likely?

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

The answer and the reasoning

B. Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency causes unopposed elastase activity, leading to early panacinar emphysema with lower-lobe predominance and can also cause hepatic injury from misfolded protein accumulation.

Option by option

  • A. Cystic fibrosis

    Cystic fibrosis causes bronchiectasis and pancreatic disease.

  • B. Alpha-1 antitrypsin deficiency (correct)

    Correct. Early basal panacinar emphysema plus liver disease is characteristic.

  • C. Primary ciliary dyskinesia

    Primary ciliary dyskinesia causes recurrent sinopulmonary infection and situs abnormalities.

  • D. Sarcoidosis

    Sarcoidosis causes granulomatous multisystem disease.

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 B, Alpha-1 antitrypsin deficiency. Alpha-1 antitrypsin deficiency causes unopposed elastase activity, leading to early panacinar emphysema with lower-lobe predominance and can also cause hepatic injury from misfolded protein accumulation.

Why is "Cystic fibrosis" not the answer?

Cystic fibrosis causes bronchiectasis and pancreatic disease.

Why is "Primary ciliary dyskinesia" not the answer?

Primary ciliary dyskinesia causes recurrent sinopulmonary infection and situs abnormalities.

Why is "Sarcoidosis" not the answer?

Sarcoidosis causes granulomatous multisystem disease.

What concept does this question test?

It tests Respiratory medicine: alpha-1 antitrypsin deficiency in General Medicine. The correct option holds because: Correct. Early basal panacinar emphysema plus liver disease is characteristic.

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.