Hepatic pathology: genetic liver disease: practice question

A Pathology 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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Pathology · Hepatic pathology: genetic liver disease

Sample item

A 35-year-old man has early-onset basal-predominant emphysema and cirrhosis. A liver biopsy shows periportal hepatocytes containing pink globules that are PAS positive and resistant to diastase. What is the underlying defect?

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

The answer and the reasoning

C. Alpha-1 antitrypsin deficiency from misfolded protein retained in the endoplasmic reticulum

In alpha-1 antitrypsin deficiency (PiZZ), the mutant protein misfolds and accumulates in hepatocyte endoplasmic reticulum, causing liver injury, while lack of circulating inhibitor allows neutrophil elastase to destroy alveoli, causing panacinar emphysema, especially in the lower lobes.

Option by option

  • A. Deficiency of glucose-6-phosphatase

    Von Gierke disease causes glycogen accumulation, hypoglycaemia and hepatic adenomas.

  • B. Excess iron absorption from HFE mutation

    Haemochromatosis shows iron on Perls stain with a bronze-diabetes picture.

  • C. Alpha-1 antitrypsin deficiency from misfolded protein retained in the endoplasmic reticulum (correct)

    Correct. Retained misfolded protein forms PAS-positive diastase-resistant globules and the lungs lose protection against elastase.

  • D. Copper accumulation from defective ATP7B

    Wilson disease shows copper and Kayser-Fleischer rings but not these globules.

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 Pathology question

What is the answer to this Pathology question?

The best answer is C, Alpha-1 antitrypsin deficiency from misfolded protein retained in the endoplasmic reticulum. In alpha-1 antitrypsin deficiency (PiZZ), the mutant protein misfolds and accumulates in hepatocyte endoplasmic reticulum, causing liver injury, while lack of circulating inhibitor allows neutrophil elastase to destroy alveoli, causing panacinar emphysema, especially in the lower lobes.

Why is "Deficiency of glucose-6-phosphatase" not the answer?

Von Gierke disease causes glycogen accumulation, hypoglycaemia and hepatic adenomas.

Why is "Excess iron absorption from HFE mutation" not the answer?

Haemochromatosis shows iron on Perls stain with a bronze-diabetes picture.

Why is "Copper accumulation from defective ATP7B" not the answer?

Wilson disease shows copper and Kayser-Fleischer rings but not these globules.

What concept does this question test?

It tests Hepatic pathology: genetic liver disease in Pathology. The correct option holds because: Correct. Retained misfolded protein forms PAS-positive diastase-resistant globules and the lungs lose protection against elastase.

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 Hepatic pathology: genetic liver disease?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.