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

Abstract

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.

Keywords:

• Burden of disease
• burden of illness
• caregiver burden
• cross-sectional survey
• patient reported outcome measures
• united states
• wilson disease

Transparency

Declaration of financial/other relationships

J.V. and M.K. declare being employees of Alexion, AstraZeneca Rare Disease. M.J.C.M and H.C. declare being employees of Oracle Corporation, Oracle Life Sciences division, which received funding from Alexion, AstraZeneca Rare Disease to conduct this study. M.J.C.M. also holds stock in Oracle Corporation.

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Author contributions

J.V. and M.K. contributed to the conception of the study. M.J.C.M. and H.C. were involved in data analysis. M.J.C.M. drafted the manuscript. All authors contributed to the design of the study, interpretation of the data and the critical review of the manuscript. All authors provided the final approval of the manuscript and agreed to be accountable for all aspects of the work.

Acknowledgements

The authors acknowledge Kyla Finlayson, ScM, of Oracle Life Sciences, for her assistance with statistical analysis and Neetu Menghani, PhD and Ramu Periyasamy, PhD, of Indegene Pvt. Ltd., India, for their assistance with medical writing.

Data availability statement

The participants of this study did not give written consent for their data to be shared publicly, so due to the sensitive nature of the research supporting data is not available.

Additional information

Funding

This study was sponsored by Alexion, AstraZeneca Rare Disease. Medical writing support was provided by Indegene Pvt. Ltd., India, in accordance with Good Publication Practice (GPP 2022) guidelines (http://ismpp.org/gpp-2022) and funded by Alexion, AstraZeneca Rare Disease.