Cardiology: familial hypercholesterolaemia: 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 · Cardiology: familial hypercholesterolaemia

Sample item

A 24-year-old man has tendon xanthomas over the Achilles tendons and an LDL cholesterol of 340 mg/dL. His father had a myocardial infarction at 40 years. Which defect is the most common cause?

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

The answer and the reasoning

C. LDL receptor gene mutation

Familial hypercholesterolaemia is an autosomal codominant disorder, most often due to LDL receptor mutations, causing markedly high LDL, tendon xanthomas and premature coronary disease. Lipoprotein lipase and ApoC-II deficiency raise chylomicrons and triglycerides, with pancreatitis and eruptive xanthomas. ApoE2 homozygosity causes remnant accumulation with palmar xanthomas.

Option by option

  • A. Apolipoprotein C-II deficiency

    ApoC-II deficiency also causes severe hypertriglyceridaemia because lipoprotein lipase is not activated.

  • B. Lipoprotein lipase deficiency

    Lipoprotein lipase deficiency causes chylomicronaemia, eruptive xanthomas and pancreatitis, not high LDL.

  • C. LDL receptor gene mutation (correct)

    Correct. LDL receptor defects explain high LDL, tendon xanthomas and premature coronary disease.

  • D. Apolipoprotein E2 homozygosity

    ApoE2 homozygosity causes remnant disease with palmar xanthomas and raised cholesterol and triglycerides.

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 C, LDL receptor gene mutation. Familial hypercholesterolaemia is an autosomal codominant disorder, most often due to LDL receptor mutations, causing markedly high LDL, tendon xanthomas and premature coronary disease.

Why is "Apolipoprotein C-II deficiency" not the answer?

ApoC-II deficiency also causes severe hypertriglyceridaemia because lipoprotein lipase is not activated.

Why is "Lipoprotein lipase deficiency" not the answer?

Lipoprotein lipase deficiency causes chylomicronaemia, eruptive xanthomas and pancreatitis, not high LDL.

Why is "Apolipoprotein E2 homozygosity" not the answer?

ApoE2 homozygosity causes remnant disease with palmar xanthomas and raised cholesterol and triglycerides.

What concept does this question test?

It tests Cardiology: familial hypercholesterolaemia in General Medicine. Lipoprotein lipase and ApoC-II deficiency raise chylomicrons and triglycerides, with pancreatitis and eruptive xanthomas. ApoE2 homozygosity causes remnant accumulation with palmar xanthomas.

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 Cardiology: familial hypercholesterolaemia?

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.