Update on diagnosis and treatment of Wilson disease in China

Wilson disease ( WD) is a rare and treatable genetic disease that is found worldwide. The latest progress and author's experience in this field are described, and some notable clinical issues concerning this disease in China are discussed. Many studies have shown that in recent years, the number and age range of WD cases have increased, and more and more liver-type and atypical cases have been identified; WD is difficult to diagnose, and misdiagnosed cases are commonly seen. Heightened alertness is the key to the prevention of misdiagnosis, and laboratory testing is an indispensible basis for diagnosis of this disease. Kayser-Fleischer ring, ceruloplasmin, urinary copper, hepatic copper, and genetic testing are of great significance for the diagnosis of WD. Hepatic copper has the highest specificity and sensitivity for WD, reaching 95%, and genetic testing has a specificity of 100% and a sensitivity of 60%-85% for WD. Patients suspected of WD should undergo systemic copper metabolic examination. Diagnostic criteria should be strictly followed, and WD can be diagnosed if the total score is not lower than 4; diagnosis cannot be based on a single test. Once the diagnosis is confirmed, therapy is started regardless of the severity of disease. Severe cases are not encouraged to discontinue therapy due to the side effects of drugs. Fulminating cases should receive rapid decopper treatment as soon as possible. Liver transplantation may be considered for patients with acute or chronic liver failure unresponsive to medical therapy. Overall, patients who receive adequate care for WD have a good long-term prognosis. We need to recognize the new characteristics of this disease and improve the diagnosis and treatment of WD in China.