Indian J Gastroenterol DOI 10.1007/s12664-015-0552-9
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 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. 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 chromosome 13, leading to defective incorporation of copper into apoceruloplasmin (with resultant ceruloplasmin deficiency) and lack of biliary excretion of copper . Diagnosis of WD is based on a combination of tests as recommended by standard diagnostic guidelines [1, 2]. It is a known fact that cholestatic liver diseases, especially sclerosing cholangitis, can have evidence of systemic copper overload and laboratory abnormalities indicating disturbed copper metabolism [3–5]. * Seema Alam [email protected]
Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, D-1, Vasant Kunj, New Delhi 110 070, India
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