An Itchy Experience - PFIC 3 Masquerading as Wilson’s Disease; Learning from Mistakes

Abstract

Introduction: Progressive familial intrahepatic cholestasis (PFIC) type 3 (PFIC3) is an autosomal recessive disorder of biliary phospholipid excretion leading to cholestasis and biliary cirrhosis. These cholestatic disorders show falsely elevated urinary copper and low ceruloplasmin together with increase in copper associated protein content on liver tissue mimicking Wilson’s disease leading to diagnostic delay. Case Report: We report a case of a 21-yearold male who presented with complaints of gradually progressive jaundice with ascites for past 3 months. His work up revealed low serum ceruloplasmin and high 24-hour urinary copper. He was diagnosed as having Wilson’s disease and living donor liver transplant was performed. Explant liver revealed prominent copper associated protein within hepatocytes and numerous Mallory Denk Bodies, findings suggestive of Wilson’s etiology for cirrhosis. Patient was discharged in a stable condition. The story continued when 4 months later his 3 siblings (20 year male, 15 year old female and 11 year old female) came with complaints of itching all over the body were evaluated. Possibility of PFIC3 was kept in differential this time due to clinical scenario and liver biopsies were performed in all three. Liver biopsy in all shows prominent bile ductular reaction, increased fibrosis and hepatic copper associated protein. MDR3 immunostains was performed in these cases was negative. Index patient slides were retrieved and MDR3 stain performed showed absent staining confirming the diagnosis of PFIC 3. Conclusion: Cholestatic liver diseases frequently mimic Wilson’s disease. Criteria for diagnosis of Wilson’s does not completely holds true for cholestatic liver diseases in children and adolescents.