Which diagnostic test is recommended to confirm Wilson's disease?

To confirm Wilson's disease, the measurement of plasma ceruloplasmin levels is indeed crucial. Wilson's disease is a genetic disorder affecting copper metabolism, leading to excessive copper accumulation in the liver and other tissues. One of the hallmark biochemical abnormalities in this condition is a significantly decreased level of ceruloplasmin in the blood. Ceruloplasmin is a copper-carrying protein, and in Wilson's disease, the impaired incorporation of copper into ceruloplasmin results in lower serum levels.

While elevated liver enzymes can indicate liver damage and increased bilirubin may suggest liver dysfunction or hemolysis, they are not specific or confirmatory for Wilson's disease. Increased serum creatinine usually reflects kidney function and is not directly related to the diagnosis of Wilson's disease. Therefore, measuring decreased plasma ceruloplasmin levels is considered a key test in the diagnostic workup for Wilson's disease.