[Progressive familial intrahepatic cholestasis (Byler disease): current genetics and therapy]

Area of Science:

• Hepatology
• Pediatric Gastroenterology
• Medical Genetics

Background:

• Progressive familial intrahepatic cholestasis (PFIC) is a group of rare congenital liver diseases presenting shortly after birth.
• Severe pruritus and progressive liver cirrhosis significantly reduce quality of life and life expectancy in affected children.
• Diagnosis involves clinical, laboratory, and genetic analysis, excluding other causes of intrahepatic cholestasis.

Observation:

• Medical therapy is effective for only a subset of PFIC patients.
• Partial biliary diversion (PBD) is the preferred surgical approach for intractable pruritus.
• Surgical treatment can delay or halt liver damage, potentially avoiding or postponing the need for orthotopic liver transplantation (OLT).

Findings:

• The study provides an overview of PFIC and highlights three surgically treated patients.
• One patient underwent a novel cholecysto-appendicostomy technique for PBD.
• Two patients successfully received OLT for PFIC.

Implications:

• Surgical management, including PBD and OLT, offers viable therapeutic options for PFIC.
• Timely surgical intervention can improve patient outcomes and potentially obviate the need for liver transplantation.
• Further research into novel PBD techniques may enhance treatment efficacy for PFIC.