Question

In Wilson's disease, the best choice of investigation is?

• A. Serum copper
• B. Ceruloplasmin
• C. Hepatic copper estimation
• D. Urine copper

Hint:

Serum ceruloplasmin is a key diagnostic marker for Wilson's disease, and its levels are often low due to copper accumulation.

Answer 1

The Correct Option is B

Wilson's disease is a genetic disorder that results in excessive copper accumulation in the body. To diagnose Wilson's disease, several diagnostic tests are utilized, and among the options provided, determining the level of ceruloplasmin is a crucial step.

The following explains why ceruloplasmin is a significant test:

• Ceruloplasmin: It is a copper-carrying protein in the blood. In Wilson's disease, ceruloplasmin levels are usually low because the liver fails to properly synthesize this protein due to the genetic defect causing copper accumulation.
• Serum Copper: Although total serum copper may appear low, this is due to the decrease in ceruloplasmin-bound copper, making it a less reliable standalone diagnostic measure.
• Urine Copper: Elevated urinary copper excretion can indicate Wilson's disease, particularly after a penicillamine challenge; however, it is usually part of a confirmatory process rather than a primary test.
• Hepatic Copper Estimation: Liver biopsy to measure hepatic copper content is definitive but invasive, often reserved for cases where other tests are inconclusive.

Thus, measuring ceruloplasmin is often a practical starting point in the investigation for Wilson's disease due to its balance of reliability and non-invasiveness.