Singapore Medical Journal · 3 authors, 2 centres
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This study evaluated several calculated biochemical parameters for diagnosing Wilson disease in a cohort of 213 patients. The central finding was that a new discriminant function combining serum caeruloplasmin and total copper showed excellent diagnostic accuracy, significantly outperforming other calculated parameters like non-caeruloplasmin copper.
This retrospective cohort study recruited 213 patients investigated for Wilson disease (WD) at a single centre. Researchers compared the diagnostic value of several calculated parameters: non-caeruloplasmin copper (NCC), NCC percentage, copper-caeruloplasmin ratio, adjusted copper, and a new discriminant function derived from serum caeruloplasmin and total copper. The discriminant function demonstrated the best diagnostic performance, with a specificity of 99.4%, sensitivity of 98.2%, and classification accuracy of 99.1%. Caeruloplasmin at a cut-off of <0.14 g/L performed better than the standard <0.20 g/L cut-off. Calculated parameters like NCC, NCC%, CCR, and adjusted copper were not helpful for diagnosis. Limitations include the small, single-centre, retrospective sample and the lack of genetic confirmation for some diagnoses. The findings suggest the discriminant function is a highly accurate tool for differentiating WD from non-WD, but validation in a larger, multicentre cohort is needed.
