Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease)

Jean C. Emond*, Peter F. Whitington

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

135 Scopus citations

Abstract

Progressive familial intrahepatic cholestasis (PFIC) presents in early childhood with pruritus, jaundice, hepatomegaly, and growth failure. Medical therapy is unsuccessful, with progression from cholestasis to hepatic fibrosis, cirrhosis, and ultimately death before the age of 10 years. Because of evidence that biliary diversion can arrest or reverse progression to hepatic fibrosis, we have used partial biliary diversion (PBD) as primary therapy in PFIC, reserving orthotopic liver transplantation (OLT) for children who have progressive disease or established cirrhosis. Seventeen children with PFIC (aged 2 months to 19 years) have been treated. PBD was performed in eight cases. In these procedures, a 10-cm properistaltic jejunal segment was anastomosed to the side of the gallbladder, terminating as an end stoma for the collection and discard of bile. Eleven patients with hepatic insufficiency (or end-stage cirrhosis) received OLT using standard techniques, at the average age of 4 years. Six of the eight children treated with PBD had complete resolution of clinical symptoms and remain well 1 to 13 years postoperatively. These six patients have conjugated bilirubin values of less than 0.3 mg/dL, normal transaminases, and a serum bile salt concentration of less than 10 nmol/mL. All have had either reversal or no progression of the hepatic fibrosis. Postoperative bleeding complications occurred in two (25%), which required reoperation. One patient had an adhesive intestinal obstruction that was managed surgically 9 months postoperatively. Two patients had no benefit from PBD, and all of them had severe bridging fibrosis (1) or cirrhosis (3). These and nine others with cirrhosis at the time of presentation received orthotopic liver transplantation; of these, eight are alive (1 to 5 years postoperatively). These results show the importance of establishing a correct diagnosis in children with cholestasis. Clinical symptoms often are severe in children with PFIC before the development of irreversible hepatic fibrosis. Because several patients who appear to have been cured with PBD initially were scheduled for OLT, it is important that transplant surgeons recognize the feasibility of this approach.

Original languageEnglish (US)
Pages (from-to)1635-1641
Number of pages7
JournalJournal of Pediatric Surgery
Volume30
Issue number12
DOIs
StatePublished - Jan 1 1995

Keywords

  • Byler's disease
  • intrahepatic cholestasis

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health

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