Inherited metabolic disorders as an indication for liver transplantation in adults

Czech version

Authors: K. Plchová; L. Gonsorčíková ; T. Hucl ; J. Šperl
Authors‘ workplace: Klinika hepatogastroenterologie, IKEM, Praha
Published in: Gastroent Hepatol 2026; 80(5): 416-425
Category: Hepatology: Rewiev Article
doi: https://doi.org/10.48095/ccgh2026416

Overview

Rare metabolic liver diseases constitute a heterogeneous group of genetically determined disorders that manifest in both childhood and adulthood. Liver transplantation is indicated for acute or chronic liver failure; however, for some metabolic disorders, it may also be performed even when liver function is preserved, with the aim of correcting the underlying metabolic disorder and preventing the development of serious extrahepatic complications. In genetically determined cholestatic diseases, severe pruritus unresponsive to available treatments may also be a specific indication for transplantation. Therefore, the indications and timing of transplantation are based not only on the severity of liver involvement but also on the natural course of the specific disease, the options for conservative treatment, the expected benefit of transplantation, and the risk of developing irreversible complications. This article summarizes the specifics of liver transplantation in selected inherited metabolic disorders, with a focus on diseases relevant to adult hepatology practice.

Keywords:

liver transplantation – inherited metabolic disorders – rare metabolic liver diseases – Wilson’s disease – 1-antitrypsin deficiency – hereditary hemochromatosis – progressive familial intrahepatic cholestasis

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