Wilson disease classically shows which laboratory abnormalities?

Wilson disease classically shows which laboratory abnormalities?

• A. Increased ceruloplasmin, increased urinary copper
• B. Normal ceruloplasmin, decreased urinary copper
• C. Decreased ceruloplasmin, increased urinary copper
• D. Increased ceruloplasmin, increased urinary copper

Answer: (C)

Wilson disease alters how copper is handled by the liver, leading to low ceruloplasmin levels and increased copper loss in the urine. The ATP7B defect prevents proper loading of copper onto ceruloplasmin and impairs biliary excretion, so ceruloplasmin in the blood is decreased. At the same time, unbound copper accumulates and is filtered by the kidneys, raising urinary copper excretion. Thus, the classic labs are decreased ceruloplasmin with increased urinary copper.

Wilson disease alters how copper is handled by the liver, leading to low ceruloplasmin levels and increased copper loss in the urine. The ATP7B defect prevents proper loading of copper onto ceruloplasmin and impairs biliary excretion, so ceruloplasmin in the blood is decreased. At the same time, unbound copper accumulates and is filtered by the kidneys, raising urinary copper excretion. Thus, the classic labs are decreased ceruloplasmin with increased urinary copper.