Long-term outcomes after cholecystocolostomy for progressive familial intrahepatic cholestasis

Aim To evaluate the long-term efficacy of cholecystocolostomy surgery for progressive familial intrahepatic cholestasis (PFIC). Methods From August 2003 to November 2014, 34 clinically diagnosed children, including 11 with familial intrahepatic cholestasis-1 (FIC1), 13 with bile salt export pump (BSEP) disease, five with low gamma-glutamyl transpeptidase (GGT) disease (levels <100 U/L), and five with multidrug resistance class III (MDR3) disease with high GGT (>100 U/L), were identified in our center. Data were collected retrospectively from individuals who collectively had 36 surgical operations and two orthotopic liver transplantations (OLT). Results Serum total bilirubin (0 = 163.54 +/- 106.02, 36 months = 23.38 +/- 17.66 mu mol/L) and bile acid (0 = 325.83 +/- 153.09, 36 months = 48.36 +/- 79.71 mu mol/L) decreased after cholecystocolostomy in PFIC patients (P < 0.001). All patients experienced decreased severity of pruritus (88.2% vs. 16.1%, P < 0.001) and a greater freedom from growth retardation after cholecystocolostomy (-3.35 vs. -1.03, P < 0.001). Defecation frequency increased in PFIC patients after cholecystocolostomy (P = 0.002). Four patients (three with FIC1 and one with BSEP) experienced recurrence of cholestasis and two underwent reoperation. Two BSEP patients underwent OLT. One patient with BSEP and one patient with MDR3 died due to severe diarrhea and dehydration; one BSEP patient died of intractable constipation. Conclusions This is the first long-term, large-scale analysis of cholecystocolostomy approaches for PFIC. Approaches single and well tolerated, and generally result in improvement of pruritus and cholestasis.