Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword - PubMed (original) (raw)

Case Reports

. 2019 Nov;128(3):236-241.

doi: 10.1016/j.ymgme.2018.10.001. Epub 2018 Oct 9.

Affiliations

Case Reports

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword

Katell Peoc'h et al. Mol Genet Metab. 2019 Nov.

Abstract

Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic porphyrias (AHP). These diseases have been identified as risk factors for primary liver cancers (PLC), mainly hepatocellular carcinoma (HCC: range 87-100%) but also cholangiocarcinoma, alone or combination with HCC. In AHP, HCC annual incidence rates range from 0.16 to 0.35% according to the populations studied. Annual incidence rates are higher in Swedish and Norwegian patients, due to a founder effect. It increases above age 50. The pathophysiology could include both direct toxic effects of heme precursors, particularly δ-aminolevulinic acid (ALA), compound heterozygosity for genes implied in heme biosynthesis pathway or the loss of oxidative stress homeostasis due to a relative lack of heme. The high HCC incidence justifies radiological surveillance in AHP patients above age 50. Efforts are made to find new biological non-invasive markers. In this respect, we describe here the first report of PIVKA-II clinical utility in the follow-up of an AIP patient that develop an HCC. In this manuscript we reviewed the epidemiology, the physiopathology, and the screening strategy of HCC in AHP.

Copyright © 2018 Elsevier Inc. All rights reserved.

PubMed Disclaimer

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources