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World J Hepatol. Jun 27, 2021; 13(6): 634-649
Published online Jun 27, 2021. doi: 10.4254/wjh.v13.i6.634
Wilson's disease: Revisiting an old friend
Ana Lucena-Valera, Domingo Perez-Palacios, Rocio Muñoz-Hernandez, Manuel Romero-Gómez, Javier Ampuero
Ana Lucena-Valera, Domingo Perez-Palacios, Department of Gastroenterology, Hospital Universitario Virgen del Rocio, Sevilla 41013, Spain
Rocio Muñoz-Hernandez, SeLiver Group, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, España
Manuel Romero-Gómez, Javier Ampuero, Department of Unit of Digestive Diseases, Hospital Universitario Virgen del Rocio, Sevilla 41014, Spain
Author contributions: Ampuero J is the guarantor of the article; Lucena-Valera AL, Perez-Palacios D, Muñoz-Hernandez R, and Ampuero J drafted the manuscript; Romero-Gómez M, and Ampuero J performed a critical review of the manuscript; all authors approved the final version of the article, including the authorship list.
Supported by Consejería de Salud. Junta de Andalucía, No. PI_0039_2017; and Junta de andalucia, No. 201799903406796.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Javier Ampuero, MD, PhD, Doctor, Research Scientist, Department of Unit of Digestive Diseases, Hospital Universitario Virgen del Rocio, Avda. Manuel Siurot s/n, Sevilla 41014, Spain. jampuero-ibis@us.es
Received: January 24, 2021
Peer-review started: January 24, 2021
First decision: March 8, 2021
Revised: March 21, 2021
Accepted: May 8, 2021
Article in press: May 8, 2021
Published online: June 27, 2021
Processing time: 149 Days and 5.7 Hours
Abstract

Wilson's disease (WD) is a rare condition caused by copper accumulation primarily in the liver and secondly in other organs, such as the central nervous system. It is a hereditary autosomal recessive disease caused by a deficiency in the ATP7B transporter. This protein facilitates the incorporation of copper into ceruloplasmin. More than 800 mutations associated with WD have been described. The onset of the disease frequently includes manifestations related to the liver (as chronic liver disease or acute liver failure) and neurological symptoms, although it can sometimes be asymptomatic. Despite it being more frequent in young people, WD has been described in all life stages. Due to its fatal prognosis, WD should be suspected in all patients with unexplained biochemical liver abnormalities or neurological or psychiatric symptoms. The diagnosis is established with a combination of clinical signs and tests, including the measurement of ceruloplasmin, urinary copper excretion, copper quantification in liver biopsy, or genetic assessment. The pharmacological therapies include chelating drugs, such as D-penicillamine or trientine, and zinc salts, which are able to change the natural history of the disease, increasing the survival of these patients. In some cases of end-stage liver disease or acute liver failure, liver transplantation must be an option to increase survival. In this narrative review, we offer an overview of WD, focusing on the importance of clinical suspicion, the correct diagnosis, and treatment.

Keywords: Wilson´s disease; Copper; ATP7B; Ceruloplasmin; Chelator; Liver disease

Core Tip: Wilson’s disease (WD) is a rare metabolic disorder caused by the deposition of copper in organs, particularly in the liver and the brain. As the symptoms and clinical presentation can be highly variable, WD is not always suspected. A detailed but practical review is presented to assist clinicians in the diagnosis and management of WD.