Hepatic pathology: Wilson 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: Wilson disease

Sample item

A 17-year-old boy has tremor, dysarthria and chronic hepatitis. Slit-lamp examination shows Kayser-Fleischer rings. Serum ceruloplasmin is low, while 24-hour urinary copper and hepatic copper are high. Which defect explains this paradox of copper overload with low ceruloplasmin?

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

The answer and the reasoning

B. ATP7B mutation, impairing biliary copper excretion and copper incorporation into ceruloplasmin

The ATP7B copper-transporting ATPase in hepatocytes loads copper onto apoceruloplasmin and also drives biliary excretion. Its loss leaves copper trapped in the liver, causing hepatitis and cirrhosis, and spilling into brain and cornea, while the copper-free apoceruloplasmin is degraded. Hence ceruloplasmin is low even though total body copper is high.

Option by option

  • A. ATP7A mutation, impairing intestinal copper absorption

    ATP7A mutation causes Menkes disease, which gives copper deficiency in male infants.

  • B. ATP7B mutation, impairing biliary copper excretion and copper incorporation into ceruloplasmin (correct)

    Correct. ATP7B dysfunction causes copper retention and low serum ceruloplasmin.

  • C. SERPINA1 mutation, causing misfolded alpha-1 antitrypsin to accumulate

    SERPINA1 mutation causes alpha-1 antitrypsin deficiency with periportal globules and emphysema.

  • D. HFE mutation, causing increased intestinal iron absorption

    HFE mutation causes hereditary haemochromatosis, an iron overload disorder with bronzed skin and diabetes.

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 B, ATP7B mutation, impairing biliary copper excretion and copper incorporation into ceruloplasmin. The ATP7B copper-transporting ATPase in hepatocytes loads copper onto apoceruloplasmin and also drives biliary excretion.

Why is "ATP7A mutation, impairing intestinal copper absorption" not the answer?

ATP7A mutation causes Menkes disease, which gives copper deficiency in male infants.

Why is "SERPINA1 mutation, causing misfolded alpha-1 antitrypsin to accumulate" not the answer?

SERPINA1 mutation causes alpha-1 antitrypsin deficiency with periportal globules and emphysema.

Why is "HFE mutation, causing increased intestinal iron absorption" not the answer?

HFE mutation causes hereditary haemochromatosis, an iron overload disorder with bronzed skin and diabetes.

What concept does this question test?

It tests Hepatic pathology: Wilson disease in Pathology. Its loss leaves copper trapped in the liver, causing hepatitis and cirrhosis, and spilling into brain and cornea, while the copper-free apoceruloplasmin is degraded. Hence ceruloplasmin is low even though total body copper is high.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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: Wilson 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.