CASE SERIES Cholestatic liver disease masquerading as Wilson disease Vikrant Sood 1 & Dinesh Rawat 1 & Rajeev Khanna 1 & Seema Alam 1 Received: 26 September 2014 /Accepted: 30 March 2015 # Indian Society of Gastroenterology 2015 Abstract Wilson disease and cholestatic liver diseases may present as a diagnostic dilemma if standard guidelines incor- porating 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 diag- nostic criteria thus need further modification especially in de- veloping countries to help avoid mismanagement. Keywords Ceruloplasmin . Cholestatic liver disease . Sclerosing cholangitis Introduction Wilson disease (WD) is characterized by systemic copper overload secondary to a defect in ATP7B gene on chromo- some 13, leading to defective incorporation of copper into apoceruloplasmin (with resultant ceruloplasmin deficiency) and lack of biliary excretion of copper [1]. Diagnosis of WD is based on a combination of tests as recommended by stan- dard diagnostic guidelines [1, 2]. It is a known fact that cho- lestatic liver diseases, especially sclerosing cholangitis, can have evidence of systemic copper overload and laboratory abnormalities indicating disturbed copper metabolism [3–5]. We hereby present a case series of four patients who mimicked WD on clinical and laboratory assessment, leading to delay in correct diagnosis and management. Methods All patients presenting to pediatric hepatology department (age <18 years) between January 2011 to June 2014 with suspected chronic liver disease (CLD) underwent detailed eti- ologic work up (after excluding acute liver failure and acute on chronic liver failure cases) including WD profile along with viral, autoimmune, metabolic, vascular, and histological evaluation as applicable. Diagnosis of Wilson disease was based on American Association for the Study of Liver Dis- eases (AASLD) guidelines requiring all of the following [1]: 1. Presence of Kayser-Fleischer (KF) ring 2. Low serum ceruloplasmin (Cp) (<20 mg/dL) 3. Increased urinary copper excretion (>40 μg/24 h) Serum ceruloplasmin was performed by nephelometric method using Dade Behring BN ProSpec system. In cases where only two factors were present, further analysis included liver copper estimation when available. Results Of a total of 312 CLD patients, 36 patients were diagnosed as WD as per standard diagnostic criteria [1]. Diagnosed cases were initiated on chelation therapy (d-penicillamine and zinc) along with low copper high protein diet. Post chelation, pa- tients were evaluated (2 monthly intervals) for response de- fined as biochemical (all of the following- serum (total) bili- rubin<1 mg/dL, international normalized ratio <1.3 and AST/ * Seema Alam seema_alam@hotmail.com 1 Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, D-1, Vasant Kunj, New Delhi 110 070, India Indian J Gastroenterol DOI 10.1007/s12664-015-0552-9