Indian J Gastroenterol DOI 10.1007/s12664-015-0552-9
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 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 [1]. 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] 1
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
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 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 [1]. 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] 1
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
