Diagnosis and management of Wilson’s disease: Current perspectives

Abstract Wilson’s disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene on chromosome 13q. The clinical manifestations of WD are varied and occur due to copper accumulation in organs such as the liver and brain. Although there are various laboratory findings and radiological signs suggestive of WD, they are non-specific and can be abnormal in various clinical conditions. If left untreated, the disease is fatal; therefore, early diagnosis and treatment is of utmost importance. Although several guidelines have been formulated, a clear management consensus is lacking. We performed a comprehensive literature search using the PubMed database before November 1, 2022, to extract relevant information for this narrative review with the aim of providing updates on the diagnosis and management of WD.