Case Report
Copyright ©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Dec 14, 2014; 20(46): 17656-17660
Published online Dec 14, 2014. doi: 10.3748/wjg.v20.i46.17656
Late onset fulminant Wilson’s disease: A case report and review of the literature
Ella Weitzman, Orit Pappo, Peretz Weiss, Moshe Frydman, Yael Haviv-Yadid, Ziv Ben Ari
Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel
Orit Pappo, Department of Pathology, Sheba Medical Center, Ramat Gan 52621, Israel
Moshe Frydman, Institute of Genetics, Sheba Medical Center, Ramat Gan 52621, Israel
Yael Haviv-Yadid, Intensive Care Unit, Sheba Medical Center, Ramat Gan, Tel Aviv University, Ramat Gan 52621, Israel
Ziv Ben Ari, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69975, Israel
Author contributions: Weitzman E wrote the paper; Pappo O performed the histological studies and their interpretation; Weiss P collected the patient’s clinical data; Frydman M performed the genetic analysis and their interpretation; Haviv-Yadid Y collected the patient’s clinical data; Ben Ari Z designed the research, performed the research, analyzed the data and wrote the paper.
Correspondence to: Ziv Ben Ari, MD, Professor of Internal Medicine, Liver Disease Center, Sheba Medical Center, 1 Derech Sheba St., Ramat Gan 52621, Israel. ziv.ben-ari@sheba.health.gov.il
Telephone: +972-3-5307180 Fax: +972-3-5307190
Received: March 14, 2014
Revised: June 16, 2014
Accepted: July 11, 2014
Published online: December 14, 2014
Abstract

Wilson’s disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. WD can be present in different clinical conditions, with the most common ones being liver disease and neuropsychiatric disturbances. Most cases present symptoms at < 40 years of age. However, few reports exist in the literature on patients in whom the disease presented beyond this age. In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content. We also reviewed the relevant literature. The diagnosis of WD with late onset presentation is easily overlooked. The diagnostic features and the genetic background in patients with late onset WD are not different from those in patients with early onset WD, except for the age. Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early.

Keywords: Wilson’s disease, Late onset, Fulminant, ATP7B gene mutations, Copper

Core tip: There are few reports in the literature on patients in whom Wilson’s disease presented well beyond the age of 40 years and much less when the presentation is fulminant. We present a 58-year-old patient with late onset fulminant Wilson’s disease and very rare mutations in the ATP7B gene. In addition, we review the relevant literature on late onset fulminant Wilson’s disease.