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

João Miguel Pimentel; Susana Nobre; Rui Caetano Oliveira; Ricardo Martins; Maria Augusta Cipriano

doi:10.4285/ctr.24.0016

View

Article

View

Clin Transplant Res 2024; 38(3): 241-245

Published online September 30, 2024

https://doi.org/10.4285/ctr.24.0016

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

João Miguel Pimentel^1,2, Susana Nobre³, Rui Caetano Oliveira^1,2,4,5, Ricardo Martins^1,6, Maria Augusta Cipriano²

¹Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal
²Department of Pathology, Unidade Local de Saúde de Coimbra, Coimbra, Portugal
³Unidade de Hepatologia e Transplantação Hepática Pediátrica, Unidade Local de Saúde de Coimbra, Coimbra, Portugal
⁴Coimbra Institute for Clinical and Biomedical Research (iCBR), Coimbra, Portugal
⁵Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Coimbra, Portugal
⁶Department of Surgery, Unidade Local de Saúde de Coimbra, Coimbra, Portugal

Correspondence to: João Miguel Pimentel
Department of Pathology, Hospitais da Universidade de Coimbra, Av. Bissaya Barreto - Praceta Prof. Mota Pinto, Coimbra 3000-075, Portugal
E-mail: joaomiguelfhp@gmail.com

Received: March 27, 2024; Revised: July 29, 2024; Accepted: August 27, 2024

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Go to
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.

Keywords: Progressive familial intrahepatic cholestasis, Liver transplantation, Hepatocellular carcinoma, Cirrhosis, Case report