Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jan 14, 2018; 24(2): 290-296
Published online Jan 14, 2018. doi: 10.3748/wjg.v24.i2.290
Clinically diagnosed late-onset fulminant Wilson’s disease without cirrhosis: A case report
Takahiro Amano, Tokuhiro Matsubara, Tsutomu Nishida, Hiromi Shimakoshi, Akiyoshi Shimoda, Aya Sugimoto, Kei Takahashi, Kaori Mukai, Masashi Yamamoto, Shiro Hayashi, Sachiko Nakajima, Koji Fukui, Masami Inada
Takahiro Amano, Tokuhiro Matsubara, Tsutomu Nishida, Hiromi Shimakoshi, Akiyoshi Shimoda, Aya Sugimoto, Kei Takahashi, Kaori Mukai, Masashi Yamamoto, Shiro Hayashi, Sachiko Nakajima, Koji Fukui, Masami Inada, Department of Gastroenterology and Hepatology, Toyonaka Municipal Hospital, Toyonaka, Osaka 560-8565, Japan
Author contributions: Matsubara T, Amano T and Nishida T conceived and designed the study, acquired and analyzed the data, drafted the article; Shimakoshi H, Shimoda A, Sugimoto A and Takahashi K interpreted the data; All authors gave final approval of the manuscript.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
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: Tokuhiro Matsubara, MD, PhD, Department of Gastroenterology and Hepatology, Toyonaka Municipal Hospital, 4-14-1 Shibahara, Toyonaka, Osaka 560-8565, Japan. tmatsubara@chp.toyonaka.osaka.jp
Telephone: +81-6-68430101 Fax: +81-6-68583531
Received: October 16, 2017
Peer-review started: October 16, 2017
First decision: November 8, 2017
Revised: November 23, 2017
Accepted: November 28, 2017
Article in press: November 28, 2017
Published online: January 14, 2018
ARTICLE HIGHLIGHTS
Case characteristics

A 64-year-old woman was referred to our hospital with jaundice of the bulbar conjunctiva and general fatigue.

Clinical diagnosis

A physical examination showed normal abdominal findings but Kayser-Fleischer ring was not clear. The authors first diagnosed hepatic failure of unknown cause.

Differential diagnosis

Malignant tumors (hepatocellular carcinoma, cholangiocarcinoma and metastatic tumors) and hepatic failure-related causes, such as viral hepatitis, autoimmune hepatitis or primary biliary cirrhosis, drug-induced hepatic damage.

Laboratory diagnosis

Laboratory studies revealed the diagnostic criteria for Wilson’s disease based on the American Association for the Study of Liver Disease (AASLD) and European Association for study of the liver (EASL) clinical practice guidelines; declined serum ceruloplasmin levels (16.7 mg/dL) and elevated urinary copper levels [17900 μg/dL (895 μg/d)], and Wilson’s disease-specific routine tests; reduced hemoglobin (6.1 g/dL), decreased ratios of alkaline phosphatase (ALP) to total bilirubin (T-Bil) (1.3) and elevated ratios of aspartate aminotransferase (AST) to alanine aminotransferase (ALT) (10.9).

Imaging diagnosis

Contrast computerized tomography (CT) showed hepato-splenomegaly without mass lesion and dilatation of the hepatic duct in the liver.

Pathological diagnosis

At autopsy, the liver did not show a bridging pattern of fibrosis suggestive of chronic liver injury.

Treatment

Administration penicillamine and zinc acetate were started.

Related reports

Regarding predictive markers for the diagnosis of Wilson’s disease-induced acute hepatic failure, the sensitivity/specificity of reduced hemoglobin, elevated serum copper levels, ALP to T-Bil ratio, AST to ALT ratio and the combination of ALP to T-Bil ratio were 94%/74%, 75%/96%, 94%/96%, 94%/86% and 100%, respectively.

Term explanation

To the best of our knowledge, the present case is the first report of a patient diagnosed with late-onset fulminant WD without cirrhosis who had positive disease-specific routine tests.

Experiences and lessons

Generally, WD is recognized as a slow, progressive chronic disease with young-onset in children or young adults, but this case reports a patient with sporadic, late-onset fulminant WD without cirrhosis. In addition, predictive markers (reduced hemoglobin, elevated serum copper levels, decreased ratios of ALP to T-Bil and elevated ratios of AST to ALT) were useful in the diagnosis of WD.