Progressive familial intrahepatic cholestasis type 4: a case report.

Area of Science:

• Hepatology
• Genetics
• Pediatric Gastroenterology

Background:

• Progressive familial intrahepatic cholestasis (PFIC) is a rare, autosomal recessive liver disease.
• Characterized by jaundice, pruritus, and potential progression to liver failure.
• Traditionally classified into three subtypes, but genetic advancements reveal more types.

Observation:

• A 6-month-old boy presented with progressive jaundice and pruritus since 2 months of age.
• Diagnosed with PFIC type 4 after thorough investigation.
• Initial medical management (low-fat diet, UDCA, vitamins, cholestyramine) provided limited relief.

Findings:

• The patient experienced refractory pruritus and impaired quality of life despite medical treatment.
• Surgical biliary diversion at 1 year of age led to significant improvement in symptoms.
• PFIC type 4 diagnosis was confirmed through advanced genetic testing.

Implications:

• Increased use of genetic testing aids in diagnosing rarer PFIC subtypes.
• Surgical biliary diversion offers a viable therapeutic option for PFIC.
• This intervention may delay or eliminate the need for liver transplantation in select PFIC cases.