Population screening and diagnostic strategies in screening family members of Wilson’s disease patients

Wilson’s disease (WD), also named hepatolenticular degeneration, is an autosomal-recessive disorder in which abnormal copper metabolism leads to copper excretion disorder and deposition in target organs. WD has a high mortality rate and disability rate, however, it is one of the treatable hereditary diseases. Irreversible tissue injury can be prevented if WD was diagnosed and treated before the development of clinical symptoms. Thus it is necessary to screen WD in the family members of the proband. First-degree relatives of a proband with WD should be screened. First-degree relatives should include the previous generation, siblings and the next generation. If available, genetic testing can be used as the primary screening method. Although the relatives of a proband are more likely to be patients with WD, the diagnosis should be based on sufficient evidence to avoid unnecessary lifelong treatment.