[Recent Advances in the Diagnosis and Management of Wilson's Disease]

This review summarizes recent developments in the genetics of Wilson's disease, highlights major diagnostic innovations, discusses novel aspects of therapeutic strategies, and outlines advances in treatment monitoring that are of particular relevance for clinical practice. Recent genetic population studies based on carrier frequencies of ATP7B mutations suggest that the prevalence of Wilson's disease is higher than estimates derived from clinical patient registries. Current evidence indicates that some ATP7B mutations are associated with milder disease phenotypes and reduced penetrance, supporting the concept of genotype-phenotype associations. A major advance in the diagnosis of Wilson's disease is the introduction of Relative Exchangeable Copper (REC). An additional diagnostic improvement is metallothionein immunohistochemistry in liver biopsy specimens. In cases of Wilson's disease-related acute liver failure, immediate listing for liver transplantation is generally recommended. Based on recent studies, bridging plasma exchange therapy should be considered in all patients and particularly in patients without advanced hepatic encephalopathy, and in selected cases with early treatment and mild encephalopathy transplantation may be avoided.