Reevaluating cholestasis: a case of PFIC3 diagnosed through whole genome sequencing after initial miss on cholestasis genetic panel

Progressive Familial Intrahepatic Cholestasis (PFIC) 3 is a genetic condition caused by disruption of transportation of bile acids across hepatocytes resulting in bile acid buildup leading to cholestasis, liver dysfunction, and potentially liver failure. Our patient is an 18-year-old female with scoliosis and Bertolotti syndrome status-post left periacetabular osteotomy who presented with jaundice, scleral icterus, pruritis, elevated transaminases, cholestasis, and elevated gamma-glutamyl transferase (GGT). Evaluation revealed a negative cholestasis genetic panel with whole genome sequencing finding an ABCB4 gene mutation confirming PFIC3 diagnosis. She was started on ileal bile acid transporter (IBAT) inhibitors with clinical improvement.