Minireviews
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 16, 2022; 10(14): 4334-4347
Published online May 16, 2022. doi: 10.12998/wjcc.v10.i14.4334
Practical insights into chronic management of hepatic Wilson’s disease
Erica Nicola Lynch, Claudia Campani, Tommaso Innocenti, Gabriele Dragoni, Paolo Forte, Andrea Galli
Erica Nicola Lynch, Claudia Campani, Tommaso Innocenti, Gabriele Dragoni, Andrea Galli, Gastroenterology Research Unit, Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence, Florence 50134, Italy
Claudia Campani, Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy
Gabriele Dragoni, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy
Paolo Forte, Division of Gastroenterology, University Hospital “Careggi”, Florence 50134, Italy
Author contributions: Lynch EN and Campani C wrote the paper; Lynch EN (native English speaker) performed English language proofreading; Innocenti T, Dragoni G, Forte P, and Galli A critically revised the manuscript; all authors approved the final version of the paper.
Conflict-of-interest statement: Authors declare no conflict of interests for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Andrea Galli, MD, PhD, Professor, Gastroenterology Research Unit, Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence, Viale G. B. Morgagni 50, Florence 50134, Italy. andrea.galli@unifi.it
Received: August 2, 2021
Peer-review started: August 2, 2021
First decision: October 2, 2021
Revised: October 7, 2021
Accepted: March 27, 2022
Article in press: March 27, 2022
Published online: May 16, 2022
Processing time: 283 Days and 20 Hours
Abstract

Wilson’s disease (WD) is a rare inherited disorder of human copper metabolism, with an estimated prevalence of 1:30000-1:50000 and a broad spectrum of hepatic and neuropsychiatric manifestations. In healthy individuals, the bile is the main route of elimination of copper. In WD patients, copper accumulates in the liver, it is released into the bloodstream, and is excreted in urine. Copper can also be accumulated in the brain, kidneys, heart, and osseous matter and causes damage due to direct toxicity or oxidative stress. Hepatic WD is commonly but not exclusively diagnosed in childhood or young adulthood. Adherent, non-cirrhotic WD patients seem to have a normal life expectancy. Nevertheless, chronic management of patients with Wilson’s disease is challenging, as available biochemical tests have many limitations and do not allow a clear identification of non-compliance, overtreatment, or treatment goals. To provide optimal care, clinicians should have a complete understanding of these limitations and counterbalance them with a thorough clinical assessment. The aim of this review is to provide clinicians with practical tools and suggestions which may answer doubts that can arise during chronic management of patients with hepatic WD. In particular, it summarises current knowledge on Wilson’s disease clinical and biochemical monitoring and treatment. It also analyses available evidence on pregnancy and the role of low-copper diet in WD. Future research should focus on trying to provide new copper metabolism tests which could help to guide treatment adjustments.

Keywords: Wilson’s disease; Urinary copper excretion; Non-ceruloplasmin-bound copper; D-penicillamine; Trientine; Zinc salts

Core Tip: Wilson’s disease (WD) is rare but curable. Chronic management of WD can be challenging as copper metabolism tests are not standardised. This review provides a broad guidance for the monitoring and treatment of patients with WD. It also analyses available evidence on pregnancy and the role of low-copper diet in WD.