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Single-center experience in management of progressive familial intrahepatic cholestasis

Fatma İlknur Varol1, Mukadder Ayşe Selimoğlu1, Şükrü Güngör1

  • 1Departments of Pediatric Gastroenterology, Hepatology, and Nutrition, Inonu University, Faculty of Medicine, Malatya, Turkey.

Arab Journal of Gastroenterology : the Official Publication of the Pan-Arab Association of Gastroenterology
|November 29, 2021
PubMed

Insights

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic liver disease. This study highlights PFIC types and treatment outcomes, including surgical interventions and liver transplantation, in 34 pediatric patients.

Area of Science:

  • Hepatology
  • Genetics
  • Pediatric Gastroenterology

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) is a group of rare, autosomal recessively inherited disorders causing severe intrahepatic cholestasis in children.
  • PFIC accounts for 10-15% of pediatric cholestatic liver diseases, posing a significant risk in populations with higher consanguinity rates.

Purpose of the Study:

  • To increase awareness of PFIC diseases, particularly in communities with high consanguinity.
  • To share clinical experience and management strategies for PFIC, addressing the scarcity of large case series in the literature.

Main Methods:

  • A cross-sectional study involving 34 pediatric patients diagnosed with PFIC via genetic analysis between January 2015 and July 2020.
  • Data collection included clinical presentation, genetic typing, and outcomes of interventions such as partial internal biliary diversion (PIBD) and liver transplantation.

Main Results:

  • The study identified the prevalence of PFIC types: Type 2 (55.9%), Type 1 (17.6%), Type 3 (14.7%), Type 4 (8.8%), and Type 5 (2.9%).
  • PIBD significantly improved pruritus (p=0.027) and weight z-score (p=0.043) in 5 patients. Liver transplantation was performed in 12 patients (35.3%) due to advanced fibrosis and portal hypertension.

Conclusions:

  • PFIC represents a heterogeneous and challenging group of diseases requiring high clinical suspicion for diagnosis.
  • Consideration of PFIC is crucial in children presenting with cholestasis and/or pruritus, especially with a family history of consanguinity or unexplained sibling deaths.
Abstract

Keywords:
CholestasisGeneticsManagementPartial internal biliary diversionProgressive familial intrahepatic cholestasis

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