Current and Emerging Issues in Wilson’s Disease

This comprehensive review examines Wilson’s disease, a genetic disorder of copper metabolism caused by mutations in the ATP7B gene. The article covers its diverse clinical presentations (hepatic, neurologic, and psychiatric), pathogenesis, and diagnostic challenges, including emerging methods like relative exchangeable copper (REC) measurement and proteomic screening. Current treatments penicillamine, trientine, and zinc are detailed alongside innovative approaches such as methanobactin chelation, gene therapy (using AAV vectors and CRISPR-Cas9), and hepatocyte transplantation. Prognostic tools (e.g., Leipzig and NWI scores) and management strategies for acute liver failure and pregnancy are discussed. The authors emphasize multidisciplinary care and highlight future directions, including curative gene therapies and improved adherence monitoring.

This comprehensive review examines Wilson’s disease, a genetic disorder of copper metabolism caused by mutations in the ATP7B gene. The article covers its diverse clinical presentations (hepatic, neurologic, and psychiatric), pathogenesis, and diagnostic challenges, including emerging methods like relative exchangeable copper (REC) measurement and proteomic screening. Current treatments penicillamine, trientine, and zinc are detailed alongside innovative approaches such as methanobactin chelation, gene therapy (using AAV vectors and CRISPR-Cas9), and hepatocyte transplantation. Prognostic tools (e.g., Leipzig and NWI scores) and management strategies for acute liver failure and pregnancy are discussed. The authors emphasize multidisciplinary care and highlight future directions, including curative gene therapies and improved adherence monitoring.