Compensated Cirrhosis in a 40-Year-Old Woman With Progressive Familial Intrahepatic Cholestasis Type 3
Yee Hui Yeo1,2, Danielle Hutchings3, Maha Guindi3
1Department of Medicine, Karsh Division of Gastroenterology and Hepatology, Cedars-Sinai Medical Center, Los Angeles, CA.
ACG Case Reports Journal
|July 11, 2026
Summary
Progressive familial intrahepatic cholestasis type 3 (PFIC3), caused by ABCB4 gene mutations, can present with a slow-progressing, indolent course. This case highlights phenotypic heterogeneity and delayed disease progression in PFIC3.
Area of Science:
- Hepatology
- Genetics
- Rare diseases
Background:
- Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare genetic liver disease.
- It results from mutations in the ABCB4 gene, affecting the canalicular phospholipid transporter (multidrug resistance protein 3).
- PFIC3 typically leads to advanced liver disease in childhood or early adulthood.
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