Follow-up in children with progressive familial intrahepatic cholestasis after partial external biliary diversion.
OBJECTIVE
The aim of this study was to examine whether reversion of histological fibrosis followed partial external biliary diversion (PEBD) in patients with progressive familial intrahepatic cholestasis (PFIC); whether the duration of cholestatic episodes after PEBD influenced the evolution of fibrosis; and whether genotyping was helpful in predicting outcome of PEBD.


METHODS
Children with PFIC who underwent PEBD were investigated with genetic, biochemical, and anthropometric standard methods. Serial liver specimens were assessed histologically without knowledge of genotype and outcome. Findings were evaluated in the contexts of the total duration of cholestasis and the clinical outcome after PEBD.


RESULTS
From a total of 18 children with PFIC, 13 underwent PEBD, and 12 of these (among them 10 with identified ABCB11 mutations) were amenable for clinical and histological follow-up. When compared with baseline at PEBD, statistically significant reductions were found in histological cholestasis 1 and 3 years after PEBD, and in fibrosis 5 and >10 years after PEBD. The relative duration of cholestatic episodes after PEBD was positively correlated with the severity of fibrosis. Children homozygous for the missense mutation c.890A>G in ABCB11 responded well to PEBD.


CONCLUSIONS
Biliary diversion should be regarded as the first choice of surgical treatment in noncirrhotic patients with severe ABCB11 disease and may also be efficacious in other forms of PFIC.
Arnell
Henrik
H
Department of Pediatrics, CLINTEC, Karolinska Institutet, Karolinska University Hospital, Huddinge, Stockholm, Sweden. henrik.arnell@karolinska.se
Papadogiannakis
Nikos
N
Zemack
Helen
H
Knisely
Alex S
AS
Németh
Antal
A
Fischler
Björn
B
D000293:Adolescent; D000328:Adult; D001653:Bile Ducts, Intrahepatic / Q000601:surgery*; D001662:Biliary Tract Surgical Procedures / Q000379:methods*; D002648:Child; D002675:Child, Preschool; D002780:Cholestasis, Intrahepatic / Q000473:pathology / Q000601:surgery; D005260:Female; D005355:Fibrosis; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012720:Severity of Illness Index; D016896:Treatment Outcome; D055815:Young Adult