Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report
- Author:
João Miguel PIMENTEL
1
;
Susana NOBRE
;
Rui Caetano OLIVEIRA
;
Ricardo MARTINS
;
Maria Augusta CIPRIANO
Author Information
- Publication Type:Case Report
- From: Clinical Transplantation and Research 2024;38(3):241-245
- CountryRepublic of Korea
- Language:English
- Abstract: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disorder typically presenting in infancy with cholestasis and rapidly progressing to cirrhosis. PFIC has been associated with an elevated risk of hepatocellular carcinoma (HCC), a neoplasm that is uncommon in children. PFIC type 4 has the strongest link to this type of cancer, although a few cases have also been connected to PFIC2. Herein, we report the case of a 2-year-old boy who underwent liver transplantation due to PFIC2. Histological examination showed cirrhosis and four small HCCs. Over a 20-year period following the transplantation, there was no recurrence of the disease or HCC. Although rare, HCC development can occur in PFIC and may complicate the prognosis. Liver transplantation offers a potential cure for both the metabolic disease and the neoplasm.
