Published online Jan 14, 2018. doi: 10.3748/wjg.v24.i2.290
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
A 64-year-old woman was referred to our hospital with jaundice of the bulbar conjunctiva and general fatigue.
A physical examination showed normal abdominal findings but Kayser-Fleischer ring was not clear. The authors first diagnosed hepatic failure of unknown cause.
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 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).
Contrast computerized tomography (CT) showed hepato-splenomegaly without mass lesion and dilatation of the hepatic duct in the liver.
At autopsy, the liver did not show a bridging pattern of fibrosis suggestive of chronic liver injury.
Administration penicillamine and zinc acetate were started.
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.
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.
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.