Cholestatic liver disease masquerading as Wilson disease.
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.
Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, D-1, Vasant Kunj, New Delhi, 110 070, India.
Vikrant
V
Sood
Dinesh
D
Rawat
Rajeev
R
Khanna
Seema
S
Alam
D000293:Adolescent; D015415:Biomarkers / Q000097:blood / Q000652:urine; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D015209:Cholangitis, Sclerosing / Q000175:diagnosis*; D003300:Copper / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis; D006801:Humans; D008297:Male
D015415:Biomarkers; D003300:Copper; D002570:Ceruloplasmin