Based on a review of available clinical literature on the management of Wilson’s disease, the authors describe the current advances in the diagnosis, treatment, and multidisciplinary management of the disease. Pharmacotherapy can include oral chelators, including penicillamine and trientine, the recently approved tetrahydrochloride version of trientine, and zinc salts. “Once the diagnosis of Wilson’s disease is established, lifelong medical therapy should begin, preferably with a chelator in symptomatic patients,” the article notes.
The investigators conclude: “Future population screening is likely to identify patients earlier in the course of the disease. Novel treatments will address unmet needs and furnish new options for individualizing treatment. Gene therapy or gene repair has the potential to provide the first cures for Wilson’s disease, apart from liver transplantation. Fine-tuned monitoring will establish the effectiveness and durability of these therapies. Continued efforts to describe the complicated pathobiology of Wilson’s disease entail expanding the focus on gene expression and mutated gene-product dysfunction to include an assessment of how different tissues respond to intracellular alterations caused by defective ATP7B. This approach enlarges the scope from genomic to postgenomic issues and will further enhance our understanding of Wilson’s disease.”