Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Dec 18, 2015; 7(29): 2859-2870
Published online Dec 18, 2015. doi: 10.4254/wjh.v7.i29.2859
Wilson’s disease: A review of what we have learned
Kryssia Isabel Rodriguez-Castro, Francisco Javier Hevia-Urrutia, Giacomo Carlo Sturniolo
Kryssia Isabel Rodriguez-Castro, Gastroenterology and Endoscopy, Policlinico Abano Terme, 35031 Abano Terme, Padua, Italy
Kryssia Isabel Rodriguez-Castro, Francisco Javier Hevia-Urrutia, Gastroenterology, Hospital San Juan de Dios, Apdo Postal 10138-1000, San José, Costa Rica
Kryssia Isabel Rodriguez-Castro, Giacomo Carlo Sturniolo, Department of Surgery, Oncology and Gastroenterology, Padua University Hospital, 35120 Padua, Italy
Francisco Javier Hevia-Urrutia, Hospital CIMA, Apdo Postal 10201, San José, Costa Rica
Author contributions: All authors contributed to this manuscript.
Conflict-of-interest statement: All authors declare they have no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Correspondence to: Kryssia Isabel Rodriguez-Castro, MD, PhD, Gastroenterology and Endoscopy, Policlinico Abano Terme, Piazza Cristoforo Colombo, 1, 35031 Abano Terme, Padua, Italy. kryssiarodriguez@gmail.com
Telephone: +39-33-36167592 Fax: +39-04-98221211
Received: June 14, 2015
Peer-review started: June 15, 2015
First decision: August 4, 2015
Revised: November 5, 2015
Accepted: December 1, 2015
Article in press: December 2, 2015
Published online: December 18, 2015

Wilson’s disease (WD), which results from the defective ATP7B protein product, is characterized by impaired copper metabolism and its clinical consequences vary from an asymptomatic state to fulminant hepatic failure, chronic liver disease with or without cirrhosis, neurological, and psychiatric manifestations. A high grade of suspicion is warranted to not miss cases of WD, especially less florid cases with only mild elevation of transaminases, or isolated neuropsychiatric involvement. Screening in first and second relatives of index cases is mandatory, and treatment must commence upon establishment of diagnosis. Treatment strategies include chelators such as D-penicillamine and trientine, while zinc salts act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. As an orphan disease, research is lacking in this field, especially regarding therapeutic strategies which are associated with better patient compliance and which could eventually also reverse established injury.

Keywords: Wilson’s disease, Wilson disease, Chelating agents, Penicillamine, Zinc, Copper, Orphan disease, Liver transplantation

Core tip: A century after its initial description by Kinnear Wilson in 1912, knowledge on diagnosis and management of Wilson’s disease reflect its prevalence as a rare disease, largely deriving from experts’ opinions and the use of pharmacological agents without the rigorous randomized clinical trials that are the mainstay. Prompt recognition and treatment are paramount and life-saving.