S3274 A Rare Case of Benign Recurrent Intrahepatic Cholestasis (BRIC) Presenting as an Unexplained Cholestatic Jaundice

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Introduction: Benign Recurrent Intrahepatic Cholestasis (BRIC) is a very rare autosomal recessive disorder characterized by episodes of recurrent cholestatic jaundice followed by complete resolution. BRIC is associated with a mutation in both alleles of ATP8B1 (BRIC 1) or ABCB11 (BRIC2). It causes cholestasis by impairing the function of the bile salt export pump. Recognition of BRIC is important as it can lead to delayed or no diagnosis, also it is underrecognized and challenging diagnosis. Case Description/Methods: A 19-year-old South Asian male presented with nausea, vomiting, deep jaundice and pruritus of 10 days duration. Family history was negative for jaundice. He was not consuming alcohol or any drugs. Past medical records revealed three past episodes of undiagnosed cholestatic jaundice lasting for three to four weeks with complete recovery at the age of 8, 11 and 14 years respectively. Physical examination revealed stable vitals, deep icterus, cutaneous scratch marks and mild tender hepatomegaly. No stigmata of acute or chronic liver disease were identified. PT was prolonged with an INR of 1.8. AST and ALT were initially raised on admission which gradually trended down while serum total bilirubin, direct bilirubin and alkaline phosphatase continued to raise over 8 weeks. GGT remained within normal limits (Table 1). Viral markers for hepatitis A, B, C, E; HIV 1&2; EBV and CMV were negative. Workups for autoimmune hepatitis and Wilson's disease were negative. Ultrasound of the abdomen and MRCP were unremarkable. A liver biopsy was performed which showed intrahepatic and canalicular cholestasis predominantly involving zone 3 suggestive of BRIC (Figure A). He was treated with intravenous fluids, antiemetics, cholestyramine and antihistamines for symptomatic relief. Because of severe pruritus, Rifampicin was added later on for 14 days resulting in significant improvement. Liver function tests returned to baseline after 3 months. The patient was followed up for 6 months and remained asymptomatic. Discussion: Till date very few cases of BRIC have been reported, which may be due to the rarity of the condition compounded by under-recognition by clinicians. Despite being a genetic disease, most cases are sporadic. Diagnosis in our case was based on the past episodes of jaundice, present clinical features, laboratory parameters and liver biopsy findings as proposed by Luketic and Shiffman for the diagnosis of BRIC. This is a self-limiting disease with no residual damage and treatment is symptomatic.Figure 1.: A. Liver Histology (H&E × 400): Intrahepatic cholestasis (black arrow) with preserved liver architecture. Table 1. - Laboratory results T. Bilirubin (mg/dl) D. Bilirubin (mg/dl) ALP (U/L) GGT (U/L) ALT (U/L) AST (U/L) Day – 1 8.2 6.1 388 15.2 415 205 Day – 7 12.4 9.8 421 15.4 354 106 Day – 14 14.6 12.2 510 14.8 156 88 Day – 21 18.0 16.5 615 14.5 80 60 Day – 31 21.5 18.3 830 12 48 32 Day – 45 24.32 22.45 950 11.3 38 22 Day – 60 26.82 24.13 1152 10.1 36 20 Day – 75 11.24 9.12 353 9.2 32 18 Day – 90 1.6 0.8 86 9 28 15