Author:
Ajmera MD Arun,Baba MD Justin,Salimian MD Mohammad,Hwang MD Samuel,Dagli MD Aditi,Pandey MD Akash
Abstract
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.