Wilson's Disease: The Copper Connection

Wilson's disease is a rare genetic disorder in which an inborn error of copper metabolism leads to excess copper accumulation in body tissues and significant organ dysfunction. While long-term prognosis is good in effectively treated patients, its diagnosis and management can be challenging given difficulties interpreting diagnostic testing, issues with medication tolerance and adherence, and restrictive dietary practices. In this setting, patients and clinicians must balance strategies to prevent excessive copper accumulation with ensuring minimal sacrifices to patients' quality of life. This review aims to provide clinicians with a deeper understanding of human copper absorption and metabolism and a practical approach to preventing excess copper accumulation in these individuals.