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Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center.
Fahad I Alsohaibani1, Musthafa C Peedikayil1, Abdulaziz F Alfadley2
1Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
International Journal of Hepatology
|July 31, 2023
Summary
Progressive familial intrahepatic cholestasis (PFIC) is rare, with PFIC type 3 being most common in Saudi Arabia. Liver transplantation is effective, with a 64.6% rate and excellent survival, highlighting the need for early diagnosis.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) encompasses rare genetic disorders impacting bile secretion mechanisms.
- Understanding PFIC subtypes, clinical presentations, and treatment outcomes is crucial for patient management.
Purpose of the Study:
- To characterize the types, clinical features, treatment modalities, and outcomes of PFIC in Saudi Arabia.
- To evaluate the effectiveness of liver transplantation for PFIC patients in the region.
Main Methods:
- A retrospective study analyzed 79 PFIC patients diagnosed between 2002 and 2021 at King Faisal Specialist Hospital and Research Center, Riyadh.
- Data on PFIC types, genetic mutations, liver transplantation, and post-transplant outcomes were collected and statistically analyzed.
Main Results:
- PFIC type 3 was most prevalent (59.5%), followed by type 2 (34.2%), type 1 (5.1%), and type 4 (1.3%).
- Genetic mutations identified included ATP8B1, ABCB11, ABCB4, and TJP2 variants.
- A significant proportion (64.6%) of patients underwent liver transplantation, achieving excellent symptomatic control (92.2%) and a high five-year survival rate.
Conclusions:
- PFIC is rare in Saudi Arabia, but early recognition and referral for liver transplantation are vital.
- Liver transplantation demonstrates a high success rate and excellent survival for PFIC patients in this cohort.
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