Progressive familial intrahepatic cholestasis: A case with improvement in liver tests and growth following partial
Abraham Koshy1, Hariharan Ramesh, Pushpa Mahadevan
1Department of Gastroenterology, Lakeshore Hospital and Research Centre, Kochi, India. koshyabe@yahoo.com
Insights
Progressive familial intrahepatic cholestasis (PFIC) in a child was successfully treated with partial external biliary diversion (PEBD). This treatment resolved jaundice and improved growth, even with existing liver fibrosis.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Surgical Innovation
Background:
- Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders characterized by impaired bile flow.
- Intrahepatic cholestasis can lead to severe liver damage, pruritus, and jaundice in affected children.
- Current management options for PFIC are limited, often progressing to liver transplantation.
Observation:
- A 2.5-year-old boy presented with a two-week history of jaundice and pruritus.
- Investigations revealed elevated total bilirubin (23.4 mg/dL) with normal gamma-glutamyl transpeptidase.
- Liver biopsy confirmed the diagnosis of PFIC, noting the presence of bridging fibrosis.
Findings:
- The patient underwent a partial external biliary diversion (PEBD) procedure.
- Post-surgery, the patient experienced complete resolution of pruritus.
- Serum total bilirubin normalized, and growth parameters showed significant improvement within two months.
Implications:
- This case is the first reported instance of PFIC treated with PEBD in India.
- Partial external biliary diversion (PEBD) is a viable therapeutic option for PFIC, even in the presence of advanced fibrosis.
- PEBD offers a potential alternative to liver transplantation for select PFIC patients, improving quality of life and clinical outcomes.
Abstract:
A 2(1/2)-year-old boy presented with pruritus and jaundice of 2 weeks duration. On investigation, serum total bilirubin was 23.4 mg/dL and gamma glutamyl transpeptidase was normal. Liver biopsy was consistent with progressive familial intrahepatic cholestasis (PFIC). A partial external biliary diversion (PEBD) was done. Pruritus disappeared, growth improved and serum total bilirubin became normal, 2 months after surgery. This is the first report from India, of PFIC treated with PEBD and suggests that PEBD should be considered in patients with PFIC even if bridging fibrosis is present.
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