Solving the PFIC Mystery: Genetic Testing and Diagnosis in Adults

About this episode

This episode discusses the adult phenotype of PFIC and the importance of genetic testing for diagnosis.

Think PFIC is only a pediatric disease? Think again. Progressive Familial Intrahepatic Cholestasis (PFIC) was long considered a condition exclusive to children. However, breakthroughs in genomic sequencing are revealing a hidden population: adults with "unexplained" cholestasis who are actually living with undiagnosed PFIC variants. Early identification is the difference between manageable care and irreversible liver damage. In this interview episode Dr. Aparna Goel, Stanford School of Medicine, and Dr. Laura Bull, UC San Francisco, break down the adult phenotype of PFIC and how clinicians can close the diagnostic gap. What You'll Hear In This Episode: The Adult Phenotype: Why adult cases often present as "indolent" or mild compared to the severe jaundice seen in infants. Diagnostic Red Flags: When to move beyond standard autoimmune panels and look for genetic markers. Genetic Testing 101: A comparison of targeted gene panels vs. whole exome sequencing for the most efficient diagnosis. The Power of a Name: How a specific PFIC diagnosis changes everything—from family counseling to starting life-altering IBAT inhibitors. 💡 Earn 1.5 Free CME/AAPA Credits 👉 Join the Escape Room…

People in this episode

Guests: Dr. Aparna Goel, Dr. Laura Bull

Topics covered

• Progressive Familial Intrahepatic Cholestasis
• genetic testing
• adult diagnosis
• cholestasis
• liver health

Keywords

• PFIC
• genomic sequencing
• cholestasis
• diagnostic gap
• IBAT inhibitors

Mentioned in this episode

Organizations: Stanford School of Medicine, UC San Francisco, i3 Health

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