Wilson’s disease: current and potentially new therapeutic strategies

Wilson disease (WD) is a rare autosomal recessive disease in which copper accumulates in liver cells (hepatocytes) and other organs. The development of the disease is associated with mutations in the ATP7B gene, which is located on chromosome13q14. The product of this gene is a multifunctional intracellular P1-type ATPase enzyme that accelerates copper excretion through the bile duct when intracellular copper levels are high. It also metabolizes copper in other ways, preventing it from accumulating in hepatocytes. The main ways to combat Wilson’s disease are to reduce copper intake and stimulate its excretion from the body. The advent of oral chelators has revolutionized the treatment of BV, but they, as well as low-copper diets, cannot fully solve many of the problems. For example, current conventional therapies are unable to correct copper metabolism and are unable to cross the blood-brain barrier. In addition, many patients with BV face serious side effects, and the need to take medication at least twice a day for the rest of their lives creates a problem of adherence to treatment. All of this indicates that traditional therapeutic strategies have been practically exhausted and that innovative approaches to disease treatment based on the elimination of the cause of the disease are required. This review considers both current conventional therapies and potentially new therapies, including gene therapy and gene repair, which offer the hope that a complete cure of Wilson’s disease is possible. In addition, a team approach to the management of Wilson’s disease is discussed, as well as factors that contribute to achieving good patient adherence to treatment.

Wilson’s disease, treatment, innovation, treatment adherence, ATP7B

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