Therapeutic Interventions in Progressive Familial Intrahepatic Cholestasis: Experience from a Tertiary Care Centre in North India

Abstract

Medical therapy has limited value in managing symptoms of progressive familial intrahepatic cholestasis (PFIC). Liver transplantation (LT) is the only definite therapy for progressive liver failure and intractable pruritis. In recent years, biliary diversion (BD) has also shown therapeutic promise. This study was designed to review the experience of management and outcome of seven PFIC patients. Two children each had type II and III and three had type I/II PFIC, respectively. Medical treatment was successful in only one. Decompensated cirrhosis had already set in four children. They underwent a living related LT. There was one post transplant mortality. Remaining all children had a normal graft function at a mean follow-up of 50 months. One patient of PFIC type I/II received internal and another of PFIC type II received external BD. Both patients were asymptomatic at follow-up of 19 and 23 months respectively. Nontransplant surgical options should be offered to noncirrhotic children with PFIC.

Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome

“…There is paucity of literature from our country addressing the management options employed in PFIC and their outcome. In a series of 7 cases from India, only one responded to medical therapy, 2 required BD (1 underwent PEBD and 1 PIBD) and three of the four subjects with decompensated cirrhosis underwent LT. 13 In another study, 10 pruritus resolved in 8 out of 10 PFIC (9 PFIC 1 and 1 PFIC 2) cases that underwent PIBD, with significant reduction of serum bile acids. The reported complications of PIBD including intestinal obstruction, osmotic diarrhoea and ascending cholangitis were not seen in the present series.…”

“…9,10 The published data on PFIC from India is in the form of case reports 11,12 and small case series. 13 Understanding the disease spectrum in Indian children is limited by lack of diagnostic facilities (genetic analysis and immunostaining). The study was planned with the objective to describe the clinical and laboratory profile of PFIC in Indian children and evaluate their outcome on a protocol based management.…”

Progressive Familial Intrahepatic Cholestasis

“…The published data on PFIC from India is in the form of case reports [103][104][105] and small case series. 106 No data is available regarding the prevalence of PFIC in India. In the largest series of 7 children, one responded to medical therapy, 2 required biliary diversion and three of the four subjects with liver decompensation underwent liver transplantation.…”

A Child with Debilitating Pruritus

“…Three patients underwent live donor liver transplant for decompensated liver disease out of which one died. 12 …”