PFIC
Also written as: PFIC — Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis, a group of genetic disorders causing progressive liver disease in children.
Full Definition
Progressive familial intrahepatic cholestasis (PFIC) encompasses several rare genetic disorders that affect bile flow in the liver, leading to progressive cholestasis and liver damage in pediatric patients. These conditions typically present in infancy or early childhood with jaundice, pruritus, and failure to thrive. PFIC is classified into several subtypes based on the specific genetic mutations involved, with PFIC1, PFIC2, and PFIC3 being the most common. Early diagnosis and treatment are crucial to prevent progression to end-stage liver disease.
Usage
Usage note: Always capitalize as PFIC; specify subtype when known (PFIC1, PFIC2, PFIC3).
In Context
- "The infant's elevated gamma-glutamyl transferase levels suggested PFIC3 rather than PFIC1 or PFIC2." — Laboratory report
- "Genetic testing confirmed PFIC2 due to mutations in the ABCB11 gene." — Clinical documentation