? ORIGINAL ARTICLE? Current State of Wilson Disease Patients in Central Japan

Objective This study evaluated the current state of patients with Wilson disease in central Japan. Patients and Methods Between 1999 and 2007, 30 patients were diagnosed as having Wilson disease with an International Diagnostic Score of 4 or more. The phenotypes, genotypes and post-diagnostic courses of these patients were analyzed. Results Twenty-six patients had ATP7B mutations responsible for Wilson disease. Four patients had a sin-gle mutant chromosome. There were 2 major mutations of 2333 G>T and 2871 delC (40%), and 6 novel mu-tations (13%) in our patients. The first clinical manifestation was the hepatic form in 22, neurological form in 5, and hemolysis in 3 patients. The hepatic form was diagnosed around the age of 13 years, followed by neurological complication with a time lag of 9 years. Thus, some patients, especially patients with the neuro-logical form, did not undergo early diagnostic tests including ATP7B analysis. During the post-diagnosis pe-riod, 3 patients were hospitalized for recurrent liver disease, and 2 patients committed suicide. One female patient died from acute hepatic failure associated with encephalopathy after fertilization therapy, while 2 male patients recovered from encephalopathy-free, prolonged hepatic failure after noncompliance with drug ther-apy. The King’s Scores for liver transplantation were below the cut-off in both cases. Conclusion To minimize delayed diagnosis, ceruloplasmin determination and ATP7B analysis may be rec-ommended to patients showing hepatic damage of unknown etiology. At gene diagnosis, appropriate manage-ment of patients including compliance education and emotional care to prevent suicide might be important