Hepatology: hereditary haemochromatosis: 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 · Hepatology: hereditary haemochromatosis

Sample item

A 45-year-old man has bronze skin, diabetes mellitus, hepatomegaly and arthropathy of the second and third metacarpophalangeal joints. Ferritin is 2,800 ng/mL and transferrin saturation is 85%. What is the first-line treatment after confirming the diagnosis?

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

The answer and the reasoning

D. Regular therapeutic phlebotomy

Hereditary haemochromatosis (usually HFE C282Y homozygosity) causes iron overload with cirrhosis, diabetes, cardiomyopathy, hypogonadism and arthropathy. Weekly phlebotomy removes iron efficiently until ferritin reaches about 50 to 100 ng/mL, and maintenance venesection follows. Early treatment prevents complications, although established arthropathy and cirrhosis may not reverse.

Option by option

  • A. Deferoxamine as long-term first-line therapy

    Chelation is reserved for patients who cannot tolerate phlebotomy, for example because of anaemia.

  • B. Immediate liver transplantation

    Transplantation is for decompensated end-stage liver disease, not for a patient who has not been treated.

  • C. Penicillamine

    Penicillamine is a copper chelator used in Wilson disease.

  • D. Regular therapeutic phlebotomy (correct)

    Correct. Phlebotomy is cheap, effective and the standard first-line approach.

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 D, Regular therapeutic phlebotomy. Hereditary haemochromatosis (usually HFE C282Y homozygosity) causes iron overload with cirrhosis, diabetes, cardiomyopathy, hypogonadism and arthropathy.

Why is "Deferoxamine as long-term first-line therapy" not the answer?

Chelation is reserved for patients who cannot tolerate phlebotomy, for example because of anaemia.

Why is "Immediate liver transplantation" not the answer?

Transplantation is for decompensated end-stage liver disease, not for a patient who has not been treated.

Why is "Penicillamine" not the answer?

Penicillamine is a copper chelator used in Wilson disease.

What concept does this question test?

It tests Hepatology: hereditary haemochromatosis in General Medicine. Weekly phlebotomy removes iron efficiently until ferritin reaches about 50 to 100 ng/mL, and maintenance venesection follows. Early treatment prevents complications, although established arthropathy and cirrhosis may not reverse.

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 Hepatology: hereditary haemochromatosis?

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.