Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report

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 chil...

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Bibliographic Details
Published in:Clinical Transplantation and Research 2024, 38(3), , pp.241-245
Main Authors: Pimentel, João Miguel, Nobre, Susana, Oliveira, Rui Caetano, Martins, Ricardo, Cipriano, Maria Augusta
Format: Article
Language:English
Subjects:
progressive familial intrahepatic cholestasis
liver transplantation
hepatocellular carcinoma
cirrhosis
case report
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Summary: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.
ISSN:3022-6783
3022-7712
3022-7712
DOI:10.4285/ctr.24.0016