Investigation of the utility of various diagnostic guidelines for Wilson's disease

Wilson's disease is one of many potential differential diagnoses in patients with unknown liver injury or liver cirrhosis. Many patients are diagnosed in early childhood, but rare cases may not be revealed until adulthood, and of these, most present with liver cirrhosis. While some patients can be diagnosed by the examination of serum ceruloplasmin and urinary copper levels, there are patients in whom ATP7B genetic testing and hepatic copper content measurement are indicated. Diagnostic guidelines for Wilson's disease were proposed by the American Association for the Study of Liver Diseases in 2008, the European Association for the Study of the Liver in 2012, and the Japan Society of Hepatology along with affiliated societies in 2015. Even in patients in whom making a diagnosis was problematic, we were able to establish confirmation of Wilson's disease in patients with unknown adulthood liver dysfunction using these established guidelines. In this paper, we present the cases of patients with Wilson's disease treated by the administration of copper chelating agents in our department using diagnostic criteria and further provide flow charts of each guideline. We also report the utility of this approach.