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Cholestatic liver disease masquerading as Wilson disease

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Abstract

Wilson disease and cholestatic liver diseases may present as a diagnostic dilemma if standard guidelines incorporating markers of copper overload are followed. We hereby present a series of four cases of sclerosing cholangitis masquerading as Wilson disease. True Wilson disease cases had significantly lower ceruloplasmin (6 vs. 16 mg/dL) and higher 24-hour urinary copper (322.3 vs. 74.5 μg/day) as compared to mimickers. Initial low serum ceruloplasmin levels normalized in mimickers on follow up, and this may used as a diagnostic indicator. Standard Wilson disease diagnostic criteria thus need further modification especially in developing countries to help avoid mismanagement.

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Conflict of interest

VS, DR, RK, and SA all declare that they have no conflict of interest.

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The authors declare that the study was performed in a manner to conform with the Helsinki Declaration of 1975, as revised in 2000 and 2008 concerning Human and Animal Rights, and the authors followed the policy concerning informed consent as shown on Springer.com.

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Correspondence to Seema Alam.

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Sood, V., Rawat, D., Khanna, R. et al. Cholestatic liver disease masquerading as Wilson disease. Indian J Gastroenterol 34, 174–177 (2015). https://doi.org/10.1007/s12664-015-0552-9

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  • DOI: https://doi.org/10.1007/s12664-015-0552-9

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