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Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...
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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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Progressive familial intrahepatic cholestasis.

Emmanuel Jacquemin1

  • 1Pediatric Hepatology and Liver Transplantation Unit, and Reference Centre for Rare Liver Diseases, Bicêtre Hospital, AP-HP, 78 rue du général Leclerc, 94275 Le Kremlin-Bicêtre cedex, France. emmanuel.jacquemin@bct.aphp.fr

Clinics and Research in Hepatology and Gastroenterology
|November 13, 2012
PubMed
Summary

Progressive familial intrahepatic cholestasis (PFIC) comprises genetic disorders affecting bile formation in children. Early diagnosis and treatment, including ursodeoxycholic acid (UDCA) and potentially liver transplantation, are crucial for managing this rare liver disease.

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Area of Science:

  • Hepatology
  • Genetics
  • Pediatric Gastroenterology

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) is a group of rare, inherited liver diseases causing impaired bile formation in children.
  • These disorders lead to cholestasis, pruritus, jaundice, and often progressive liver damage, including fibrosis and end-stage liver disease.
  • PFIC encompasses at least three types (PFIC1, PFIC2, PFIC3), each linked to specific gene mutations affecting hepatocellular transport systems crucial for bile acid and phospholipid secretion.

Purpose of the Study:

  • To review the genetic basis, clinical manifestations, diagnostic approaches, and current management strategies for PFIC.
  • To highlight the importance of early diagnosis and intervention in improving outcomes for children with PFIC.
  • To discuss emerging therapeutic options and the role of liver transplantation in advanced cases.

Main Methods:

  • Review of existing literature on PFIC, focusing on genetic mutations, clinical presentations, and diagnostic criteria.
  • Analysis of diagnostic tools including liver imaging, histology, immunostaining (MDR3, BSEP), and genetic testing.
  • Evaluation of treatment outcomes for ursodeoxycholic acid (UDCA), surgical interventions, and liver transplantation.

Main Results:

  • PFIC1 and PFIC2 result from defects in bile salt secretion (FIC1 and BSEP proteins), while PFIC3 involves impaired biliary phospholipid secretion (MDR3 protein).
  • Clinical presentation varies, with PFIC1/PFIC2 typically appearing earlier than PFIC3, and serum GGT levels can help differentiate PFIC3.
  • Diagnosis relies on a combination of clinical findings, biochemical tests, imaging, histology, and genetic confirmation, with antenatal diagnosis possible.
  • Ursodeoxycholic acid (UDCA) is a standard therapy; biliary diversion may help with pruritus in some PFIC1/PFIC2 cases, but liver transplantation remains a common definitive treatment.

Conclusions:

  • PFIC represents a spectrum of genetic disorders requiring a multidisciplinary approach for diagnosis and management.
  • Early identification of PFIC subtypes through genetic analysis is essential for guiding treatment decisions.
  • While current therapies can manage symptoms and slow progression, liver transplantation is often necessary for end-stage disease, with ongoing research into gene therapy and other novel treatments.