Which test finding is typical in Wilson disease?

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Multiple Choice

Which test finding is typical in Wilson disease?

Copper builds up in the body because of a defect in transporting and excreting it, so the typical picture includes signs of copper deposition and markers of excess copper in the body. Kayser-Fleischer rings arise from copper deposition in the cornea and are a classic ocular clue. Serum ceruloplasmin is usually low because copper isn’t properly incorporated into ceruloplasmin and is not secreted efficiently. At the same time, the excess copper is expelled through the urine, so urinary copper excretion is elevated. So, seeing Kayser-Fleischer rings together with low ceruloplasmin and high urinary copper fits Wilson disease best. Elevated ceruloplasmin would argue against it, decreased urinary copper would be inconsistent, and a lack of response to chelation isn’t a typical diagnostic finding since chelation helps remove copper.

Copper builds up in the body because of a defect in transporting and excreting it, so the typical picture includes signs of copper deposition and markers of excess copper in the body. Kayser-Fleischer rings arise from copper deposition in the cornea and are a classic ocular clue. Serum ceruloplasmin is usually low because copper isn’t properly incorporated into ceruloplasmin and is not secreted efficiently. At the same time, the excess copper is expelled through the urine, so urinary copper excretion is elevated.

So, seeing Kayser-Fleischer rings together with low ceruloplasmin and high urinary copper fits Wilson disease best. Elevated ceruloplasmin would argue against it, decreased urinary copper would be inconsistent, and a lack of response to chelation isn’t a typical diagnostic finding since chelation helps remove copper.

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