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

Abstract

Objective: To study the clinical and laboratory profile of children with progressive familial intrahepatic cholestasis (PFIC) and evaluate their outcome.

Methods: The study is a retrospective review of all cases diagnosed with PFIC between January 2011 and July 2015. All children underwent histopathological examination and immunostaining. Management was done as per institute's protocol.

Results: There were a total of 24 PFIC cases (PFIC 1-2, PFIC 2-19, PFIC 3-3). Eleven presented as neonatal cholestasis, whereas 13 others presented after 6 months of life. Median age of presentation in PFIC 2 was 5.5 months with a time lag of 13 months in diagnosis. PFIC 1 and 2 presented in infancy, whereas PFIC 3 presented late. Familial clustering was seen in 12 of 24 cases. Pruritus resolved with medical management in two-thirds of cases, 3 cases required biliary diversion (BD) with dramatic improvement. One child improved after liver transplantation.

Conclusions: PFIC accounts for 8% of neonatal cholestasis and 34% of cholestasis in older children with PFIC 2 being the commonest subtype. Medical therapy is successful in majority. Partial internal BD should be offered to non-cirrhotic low gamma glutamyl transferase PFIC with intractable pruritus. Progression to cirrhosis may be prevented or delayed by early diagnosis and timely intervention.

Keywords: BD, biliary diversion; BSEP, bile salt export pump; DDLT, deceased donor liver transplantation; ESLD, end stage liver disease; GGT, gamma glutamyl transferase; HE, hepatic encephalopathy; ICP, intrahepatic cholestasis of pregnancy; LFT, liver functions test; LT, liver transplantation; MDR3, multi drug resistant protein 3; NCS, neonatal cholestasis syndrome; PEBD, partial external biliary diversion; PFIC, progressive familial intrahepatic cholestasis; PIBD, partial internal biliary diversion; UDCA, ursodeoxycholic acid; biliary diversion; gamma-glutamyl transferase; immunostaining; neonatal cholestasis; pruritus.

Figures

Figure 1

Flowchart for management of pruritus in children with PFIC.

Figure 2

Outcome on medical and surgical management.