Burden of Wilson Disease among patients and care partners in the United States: results from a cross-sectional survey

Objective: This study assessed the burden of Wilson Disease (WD) among patients and care partners (WD-CPs) in the US and compared it to a US general population of adults (GPs) and care partners (GP-CPs). Methods: This cross-sectional, self-reported survey included patients with WD and WD-CPs aged >= 18 years recruited through the Wilson Disease Association (WDA), while data for GPs and GP-CPs were obtained from the 2022 National Health and Wellness Survey. GPs and GP-CPs were propensity score matched (3:1) with WD patients and WD-CPs for demographics and health characteristics. Bivariate analysis evaluated differences in comorbidity burden and health-related outcomes of the WD cohorts compared to matched GP cohorts. Results: Thirty-seven patients with WD and 53 WD-CPs completed the survey. Most patients reported some treatment burden (73.3%), experienced sleep problems (60%), and visited a healthcare provider (HCP) in the past 6 months (91.9%). Compared with matched GPs, patients with WD had a significantly higher mortality risk (p < .001) and reported greater rates of chronic liver disease, cirrhosis (both, p < .001), migraines (p = .032), non-alcoholic steatohepatitis (p = .004), sleep problems (p = .009) and HCP visits (p = .002). Most WD-CPs (75.5%) reported high burden of caring (mean ZBI-12 score, 26.5) and more negative impact on esteem than GP-CPs. Conclusion: This study highlights the burden of WD experienced by patients and WD-CPs, with patients experiencing high treatment burden, comorbidity burden and healthcare resource utilization, and WD-CPs experiencing high impact of caring, including impact on employment and self-esteem. PLAIN LANGUAGE SUMMARY Wilson Disease (WD) is a rare genetic disorder that results from copper building up in the liver and the central nervous system. The management of WD has been consistent for the past 50 years. We surveyed patients with WD and family members of patients with WD ("care partners," hereby referred to as WD-CPs) residing in the US, to understand the burden of WD. We also used data from the 2022 National Health and Wellness Survey to compare patients with and WD-CPs to a sample of adults and care partners of adults in the general population (hereby referred to as GP and GP-CPs). The study found that the majority of the patients with WD reported some treatment burden (73.3%), experienced sleep problems (60.0%), and visited a healthcare provider (HCP) in the past 6 months (91.9%). Compared to GPs, patients with WD had a significantly higher risk of dying in the next 10 years and reported greater rates of other health conditions (chronic liver disease, cirrhosis, migraines, and non-alcoholic steatohepatitis), sleep problems, and visits to healthcare providers in the last 6 months. The majority of WD-CPs (75.5%) reported high burden of caring and more negative impact on their self-esteem than GP-CPs. Overall, this study highlights the burden of WD and suggests the need for more effective treatments that can reduce this burden.