Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion

Pediatr Transplant. 1999 Aug;3(3):219-24. doi: 10.1034/j.1399-3046.1999.00046.x.

Abstract

Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation and severe pruritus. Laboratory tests demonstrate elevated bilirubin and bile acids, without an increase in serum gamma-glutamyl-transpeptidase or cholesterol. This study was performed to evaluate our experience with medical therapy as well as two types of surgical treatment used in children with PFIC, particularly partial external biliary diversion (PEBD) as an alternative method of therapy to liver transplantation (OLTx). Between 1979 and 1998 we have treated 46 children with PFIC (27 boys and 19 girls), aged 10 months to 19 yr (at the time of this study). Medical treatment with ursodeoxycholic (UDCA) was used in 39 patients for the period between 6 and 82 months. PEBD (cholecysto-jejuno-cutaneostomy) was performed in 16 patients, OLTx in eight children (including one after unsuccessful PEBD). Retrospective analysis of the clinical course and selected laboratory tests (bilirubin, ASPAT, ALAT, bile acids), and histopathological examinations were performed. Results of treatment were assessed by means of influence of the type of treatment on clinical symptoms, laboratory tests, progress of liver cirrhosis and hepatic failure, as well as physical development and survival. Medical therapy was effective in the long term in four (10%) of the patients resulting in clinical and biochemical normalization. Both surgical methods of therapy of PFIC, PEBD and OLTx, resulted in an 80% success rate and therefore should be used as complementary therapies. In patients before established liver cirrhosis, PEBD should be the first choice of treatment. Patients presenting with cirrhosis or after ineffective PEBD should qualify for OLTx. With this strategy most children with PIFC can be cured.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cholagogues and Choleretics / therapeutic use
  • Cholestasis, Intrahepatic / genetics
  • Cholestasis, Intrahepatic / surgery*
  • Cholestasis, Intrahepatic / therapy*
  • Data Interpretation, Statistical
  • Dermatologic Surgical Procedures*
  • Female
  • Follow-Up Studies
  • Gallbladder / surgery*
  • Humans
  • Infant
  • Jejunum / surgery*
  • Liver Transplantation*
  • Male
  • Surgical Stomas*
  • Time Factors
  • Treatment Outcome
  • Ursodeoxycholic Acid / therapeutic use

Substances

  • Cholagogues and Choleretics
  • Ursodeoxycholic Acid