Eric Lorio, MD1, David Valadez, MD1, Naim Alkhouri, MD2, Nicole Loo, MD2
1University of Texas Health, San Antonio, TX; 2Texas Liver Institute, San Antonio, TX
Introduction: Benign Recurrent Intrahepatic Cholestasis (BRIC) represents a rare class of autosomal recessive chronic cholestasis disorders usually presenting with intense pruritus and jaundice. BRIC type 2 (BRIC 2) results from a defect in the ABCB11 gene, which encodes the ATP dependent bile salt export pump (BSEP). Here we report a unique case of a 27 year-old heterozygous female presenting with BRIC 2 and a response to steroids that may have implications for future treatment.
Case Description/Methods: A 27-year-old female presented with 4 weeks of progressive jaundice, pruritus, and weakness. A prior episode one year earlier was notable for similar symptoms that resolved with supportive measures and a liver biopsy that showed nonspecific cholestasis with features suggesting extrahepatic duct obstruction. Presenting labs were notable for AST 63, ALT 74, total bilirubin (TB) 9.1, direct bilirubin (DB) 6.7, GGT 22, and alkaline phosphatase 227. Hepatitis serology, α-1 antitrypsin, hemochromatosis, and autoimmune workup were negative. Abdominal ultrasound and CT were unremarkable. MRCP revealed mild liver enlargement (19 cm), but no biliary stricture or dilatation. Liver biopsy showed extensive canalicular cholestasis with associated mild hepatocyte pericentral and perisinusoidal fibrosis. Her symptoms and labs continued to worsen, with TB peaking at 14.2 and DB at 11.5. On day 18, she was started on methylprednisolone 40 mg IV daily and achieved modest symptomatic improvement. On day 21, TB had downtrended to 8.1, and she was discharged home with a five-day course of prednisone. Genetic testing revealed heterozygosity for ABCB11.
Discussion: This report demonstrates a fairly typical presentation of BRIC, but in an older patient than typically seen. Though BRIC classically presents with its first episode prior to second decade of life, it can present in patients of any age. Our patient’s heterozygosity for CFTR, NPHP4, and A1ATD (SERPINA1) may explain the severe nature of her disease expression, as heterozygosity in each of these genes has been associated with cholestasis. Her steroid response suggests a potentially novel treatment for BRIC and highlights the need for further consideration of steroid therapy in BSEP-related diseases.
Citation: Eric Lorio, MD; David Valadez, MD; Naim Alkhouri, MD; Nicole Loo, MD. P0081 - A UNIQUE BRIC CASE WITH RESPONSE TO GLUCOCORTICOIDS. Program No. P0081. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.