Update of expert recommendations on Wilson’s disease management

Wilson's disease is a rare autosomal recessive hereditary disorder of copper metabolism characterized by excessive copper build up in tissues, including brain and liver. The genetic defect localized at the 13q14 – q21 locus affects the gene for copper transporting protein ATP7B in the liver. This defect can be caused by deletions, insertions or missense mutations, leading to disruption of the copper incorporation into ceruloplasmin and the excretion of excess copper into bile. The disease is characterized by liver damage, neuropsychiatric symptoms, musculoskeletal, hematological and renal clinical signs, the presence of Kayser-Fleischer rings as well as many other possible symptoms, with their manifestation depending on the timeliness of diagnosis, stage and form of the disease, and therapeutic interventions.

Organizations investigating the problems of Wilson's disease regularly issue new recommendations as knowledge about the disease expands. Innovative diagnostic and therapeutic procedures are put into practice, and views on the course of the disease features change. The general updates of the latest international recommendations described in this article for their early introduction into practical healthcare relate to diagnostic algorithms, indications and the choice of timing and methods of drug treatment in various groups of patients with Wilson's disease, including a more complete review of neuropsychiatric care, as well as the possible tools for therapy monitoring.

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