How is Wilson disease diagnosed?

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Multiple Choice

How is Wilson disease diagnosed?

Wilson disease arises from a defect in ATP7B, which disrupts copper excretion into bile and its incorporation into ceruloplasmin. As a result, copper builds up in the liver and, when stores are overwhelmed, spills into the blood and other tissues. The diagnostic pattern this creates is a low serum ceruloplasmin level, increased 24-hour urinary copper excretion, and hepatic copper accumulation on biopsy. The low ceruloplasmin reflects impaired synthesis/production, the high urinary copper shows excess copper being unleashed into circulation and filtered by the kidneys, and the hepatic copper elevation confirms storage of copper in the liver. Other options fit different disorders: high ceruloplasmin is not typical of Wilson disease, autoimmune hepatitis would show autoantibodies such as anti-smooth muscle antibodies, and the ferritin/transferrin pattern points to iron overload rather than copper metabolism.

Wilson disease arises from a defect in ATP7B, which disrupts copper excretion into bile and its incorporation into ceruloplasmin. As a result, copper builds up in the liver and, when stores are overwhelmed, spills into the blood and other tissues. The diagnostic pattern this creates is a low serum ceruloplasmin level, increased 24-hour urinary copper excretion, and hepatic copper accumulation on biopsy. The low ceruloplasmin reflects impaired synthesis/production, the high urinary copper shows excess copper being unleashed into circulation and filtered by the kidneys, and the hepatic copper elevation confirms storage of copper in the liver.

Other options fit different disorders: high ceruloplasmin is not typical of Wilson disease, autoimmune hepatitis would show autoantibodies such as anti-smooth muscle antibodies, and the ferritin/transferrin pattern points to iron overload rather than copper metabolism.

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