J Pediatr Surg 1995 Dec;30(12):1635-41

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

Emond JC, Whitington PF

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