Which statement best describes Wilson's disease in terms of copper metabolism and ceruloplasmin?

• A. Ceruloplasmin deficiency with high copper
• B. Ceruloplasmin deficiency with low copper
• C. Ceruloplasmin elevation with high copper
• D. Ceruloplasmin elevation with low copper

Answer: (A)

Wilson’s disease stems from a defect in copper handling due to ATP7B mutations, which blocks copper excretion into bile and its incorporation into ceruloplasmin. Because copper cannot be loaded onto ceruloplasmin, ceruloplasmin levels fall. Meanwhile, copper accumulates in tissues—especially the liver and brain—so the total body copper is high, with increased non–ceruloplasmin bound copper in the blood. This pattern is best described as ceruloplasmin deficiency with high copper.