From the Research
Relationship between Hepatoblastoma and Progressive Familial Intrahepatic Cholestasis (PFIC)
- Hepatoblastoma has been reported in a child with Progressive Familial Intrahepatic Cholestasis (PFIC) 1
- The case study suggests that PFIC may induce hepatoblastoma, highlighting the importance of routine screening of serum alpha fetoprotein (AFP) concentration in children with liver cirrhosis 1
- There is no direct evidence of a causal relationship between Hepatoblastoma and PFIC, but the presence of liver cirrhosis in PFIC patients may increase the risk of developing hepatoblastoma 1
- Monitoring of liver tumors, especially in PFIC2 patients, is recommended from the first year of life 2
Clinical Manifestations and Diagnosis of PFIC
- PFIC is characterized by cholestasis, pruritus, and jaundice, with serum gamma-glutamyltransferase (GGT) activity normal in PFIC1 and PFIC2 patients, but elevated in PFIC3 patients 2
- Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography, and liver histology, as well as specific tests to exclude other causes of childhood cholestasis 2
- Genetic testing can confirm the diagnosis of PFIC, and antenatal diagnosis may be proposed for affected families in which a mutation has been identified 2
Treatment and Management of PFIC
- Ursodeoxycholic acid (UDCA) therapy is recommended to prevent liver damage, and biliary diversion may relieve pruritus and slow disease progression in some PFIC1 and PFIC2 patients 2
- Liver transplantation is often necessary for PFIC patients, and monitoring of liver function and disease progression is crucial 2, 3
- Recent developments in genetic diagnosis and effective drug therapy have improved the management of PFIC, and a standardized approach to diagnosis, monitoring, and treatment is recommended 3