OVERVIEW

Progressive Familial Intrahepatic Cholestasis (PFIC) in Adults: Deciphering the Role of Genetics in Diagnosis and Treatment is organized by i3 Health and will be held from Apr 30, 2026 - Apr 29, 2027.

STATEMENT OF NEED:
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare liver disorders that can now be identified through genetic testing, enabling earlier diagnosis and intervention to prevent progressive liver damage. PFIC is caused by mutations in the genes coding for proteins involved in bile formation and transport (McKiernan et al, 2023). While genetic cholestatic liver diseases have historically been considered severe, recessive pediatric disorders, advances in genome sequencing have contributed to a growing awareness of these diseases in adults. Diagnosis of adult-onset PFIC is complicated by its rarity, confusion with other hepatic diseases, and a broad spectrum of clinical presentations, including elevated liver enzymes, pruritus, drug-induced liver injury, or gallstones, which significantly impact quality of life. When not detected and treated early, PFIC can progress to end-stage liver disease. Genetic testing is an essential step in identifying PFIC and facilitating personalized management strategies that provide symptom relief and prevent complications (Thompson et al, 2025; Nasir et al, 2026). This Virtual Escape Room follows 2 patients with PFIC, Steve and Jane, through their diagnosis and treatment journeys. Join Aparna Goel, MD, Clinical Associate Professor of Medicine in the Division of Gastroenterology and Hepatology at Stanford School of Medicine, and Laura Bull, PhD, RDN, Professor in the Department of Medicine at the University of California, San Francisco, to decipher the role of genetics in the diagnosis and treatment of PFIC.

LEARNING OBJECTIVES:
Upon completion of this activity, participants should be able to:

Appraise signs, symptoms, and laboratory results that raise clinical suspicion of PFIC in adults
Utilize the results of genetic testing to inform PFIC diagnosis
Assess evidence concerning how therapeutic decision making should be influenced by genotype in adult patients with PFIC
Evaluate strategies to promote effective communication of genetic testing results with patients and families