Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Jul 27, 2019; 11(7): 607-612
Published online Jul 27, 2019. doi: 10.4254/wjh.v11.i7.607
Wilson disease developing osteoarthritic pain in severe acute liver failure: A case report
Jun Kido, Shirou Matsumoto, Keishin Sugawara, Kimitoshi Nakamura
Jun Kido, Shirou Matsumoto, Keishin Sugawara, Kimitoshi Nakamura, Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan
Author contributions: Kido J and Nakamura K designed the report; Kido J, Matsumoto S and Sugawara K collected the patient’s clinical data; Kido J and Matsumoto S analyzed the data; Kido J wrote the paper; all authors issued final approval for the version to be submitted.
Informed consent statement: Written informed consent was obtained from this patient and his parents.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Jun Kido, MD, PhD, Assistant Professor, Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-8556, Japan. kidojun@kuh.kumamoto-u.ac.jp
Telephone: +81-96-3735191 Fax: +81-96-3735335
Received: March 20, 2019
Peer-review started: March 20, 2019
First decision: April 23, 2019
Revised: May 20, 2019
Accepted: June 27, 2019
Article in press: June 27, 2019
Published online: July 27, 2019
Processing time: 129 Days and 3.8 Hours
Abstract
BACKGROUND

Wilson disease (WD) is a rare copper metabolism disorder with symptoms including hepatic disorders, neuropsychiatric abnormalities, Kayser-Fleischer rings, and hemolysis in association with acute liver failure (ALF). Osteoarthritis is a rare manifestation of WD. We experienced a case of WD with arthritic pain in the knee and liver cirrhosis. Here, we report the clinical course in a WD patient with arthritic pain and liver cirrhosis receiving combination therapy with Zn and a chelator and discuss the cause of arthritic pain.

CASE SUMMARY

We present an 11-year-old boy who developed osteoarthritis symptoms and ALF, with a New Wilson Index Score (NWIS) of 12. He was diagnosed with WD with decreased serum ceruloplasmin and copper levels, increased urinary copper excretion, and ATP7B gene mutations detected on gene analysis. There was improvement in the liver cirrhosis, leading to almost normal liver function and liver imaging, one year after receiving combination therapy with Zn and a chelator. Moreover, his arthritic pain transiently deteriorated but eventually improved with a decrease in the blood alkaline phosphatase levels following treatment.

CONCLUSION

Patients with WD who develop ALF with an NWIS > 11 may survive after treatment with Zn and chelators, without liver transplantation, when they present with mild hyperbilirubinemia and stage ≤ II hepatic encephalopathy. Osteoarthritis symptoms may improve with long-term Zn and chelator therapy without correlation of liver function in WD.

Keywords: Acute liver failure; New Wilson Index; Osteoarthritis; Wilson disease; Case report

Core tip: We present an 11-year-old boy with Wilson disease (WD) who developed osteoarthritis symptoms and acute liver failure, with a New Wilson Index Score (NWIS) of 12. His liver cirrhosis improved, leading to almost normal liver function and liver imaging results, one year after receiving combination therapy with Zn and a chelator. Patients with WD with a NWIS > 11 may be able to survive with treatment with Zn and chelators, without liver transplantation, in cases wherein they present with mild hyperbilirubinemia and stage ≤ II hepatic encephalopathy. Symptoms of associated osteoarthritis may also improve with long-term Zn and chelator therapy.