Question:medium
In Wilson disease, the best choice of investigation is:
In Wilson disease, the best choice of investigation is:
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The hepatocyte cannot load copper onto its carrier protein — so that carrier protein is low in the blood and is the easy first test.
Updated On: Jun 22, 2026
- Serum copper
- Ceruloplasmin
- Hepatic copper estimation
- Urine copper
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The Correct Option is B
Solution and Explanation
Reason from the biochemistry. In Wilson disease the faulty ATP7B protein cannot attach copper onto apoceruloplasmin in the hepatocyte and cannot excrete copper into bile. The direct, measurable consequence in blood is a low ceruloplasmin, which is why it is the practical first investigation.
Why ceruloplasmin is 'best choice'. It is cheap, non-invasive, widely available and is decreased ($<20$ mg/dL) in the great majority of patients. Used alongside a slit-lamp search for Kayser-Fleischer rings and a 24-hour urinary copper, it gives a robust working diagnosis without needing a biopsy.
Where the other options sit in the work-up.
- Serum total copper: usually low/normal and misleading, because most copper in blood is bound to ceruloplasmin; the harmful free (non-ceruloplasmin) copper is what actually rises.
- 24-hour urinary copper: raised and helpful, but it is a supportive/monitoring test, not the single best initial choice.
- Hepatic (liver biopsy) copper: this is the most accurate confirmatory gold standard ($>250$ $\mu$g/g dry weight), but it is invasive and reserved for unclear cases - not the routine 'best choice'.
So the best investigation among these is serum Ceruloplasmin (Option B).
Why ceruloplasmin is 'best choice'. It is cheap, non-invasive, widely available and is decreased ($<20$ mg/dL) in the great majority of patients. Used alongside a slit-lamp search for Kayser-Fleischer rings and a 24-hour urinary copper, it gives a robust working diagnosis without needing a biopsy.
Where the other options sit in the work-up.
- Serum total copper: usually low/normal and misleading, because most copper in blood is bound to ceruloplasmin; the harmful free (non-ceruloplasmin) copper is what actually rises.
- 24-hour urinary copper: raised and helpful, but it is a supportive/monitoring test, not the single best initial choice.
- Hepatic (liver biopsy) copper: this is the most accurate confirmatory gold standard ($>250$ $\mu$g/g dry weight), but it is invasive and reserved for unclear cases - not the routine 'best choice'.
So the best investigation among these is serum Ceruloplasmin (Option B).
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