Global burden of Wilson disease: a comprehensive evidence synthesis

Abstract Background Wilson disease (WD) is a rare inherited copper metabolism disorder with variable prevalence worldwide. Many regions lack reliable data, leading to underestimation of burden. WD presents with hepatic, neurological, and psychiatric symptoms, but mental health impacts and economic costs are often overlooked. Methods We systematically searched PubMed up to July 2025 for studies reporting WD prevalence, clinical features, quality of life, or economic burden. Disability-adjusted life years (DALYs) were estimated, and temporal trends were analyzed. Meta-analyses pooled epidemiological and clinical data. Forecast models predicted future prevalence and costs. Results A total of 136 studies were included. Prevalence varied, being higher in Southern Europe and parts of Asia, but lower in Northern/Eastern Europe. Rising prevalence was observed in Morocco, South Korea, Spain, and Germany, likely due to improved recognition. Forecasts suggest a gradual global increase through 2030. WD mainly affects young individuals (mean age 19.9 years), with hepatic involvement in 72% and acute liver failure in 31%. Overall mortality was 14%. Mental health complications were frequent, with depression in 47.7% and anxiety in 40%. DALYs have risen globally since the 1970s, with China, the U.S., and Poland projected to carry the heaviest future burden. Economic costs are substantial, particularly in the U.S., where annual hospitalization per patient may exceed USD 60,000. Conclusion WD imposes significant clinical, psychological, and economic burdens worldwide. Improved early diagnosis, standardized treatment, and comprehensive care are needed to reduce morbidity, enhance quality of life, and lower healthcare costs.