Wilson's disease.

Wilson’s disease (WD), also called progressive hepatolenticular degeneration, is a rare autosomal recessive inborn error of metabolism, first described by S.A.K. Wilson in 1912 [1]. The consequences of this disorder, related to copper deposition in various tissues, are treatable and preventable. From this point of view, even if rare, WD should be searched for in any patient with early onset movement disorder and/or hepatic manifestations as it typically associates liver and neurological signs and symptoms and often presents with a movement disorder [2,3]. If untreated, WD results in severe neurological and hepatic complications leading to death [4]. The confirmation of the role of copper and the discovery of the implication of the ATP7B gene gave new insights into WD pathogenesis and into the role of copper in liver and nervous system lesions. Several clinical and biochemical markers are available that allow diagnosis and, treatment with chelating agents and zinc salts may stabilize or reverse the disease. Liver transplantation corrects the underlying pathophysiology and can be lifesaving [4]. Prevention of copper accumulation is mandatory in asymptomatic family members. However, as genetic testing is expensive and complicated by the great variability of the genetic background of WD, diagnosis of affected asymptomatic members still relies upon probability arguments and preventive treatment is based on a benefit–risk decision. This article reviews pathogenesis, recent molecular biology advances, clinical picture, diagnosis and treatment options in WD.