Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study

Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the ATP7B gene. It usually affects young individuals and can produce hepatic and/or neurological involvement, potentially affecting health-related quality of life (HRQoL). We assessed HRQoL in a cohort of Spanish patients with WD and evaluated disease impact on several domains of patients' lives, treatment adherence, drug preference and satisfaction, and healthcare resource utilisation in a cross-sectional, retrospective, multicentric, observational study. A total of 102 patients were included: 81.4% presented isolated liver involvement (group H) and 18.6% presented neurological or mixed involvement (group EH). Up to 30% of patients reported a deteriorated emotional status with anxiety and depression, which was greater in the EH subgroup; the use of neuropsychiatric drugs was high. Over 70% of the patients were satisfied with their current treatment but complained about taking too many pills, stating they would consider switching to another more patient-friendly treatment if available. The Simplified Medication Adherence Questionnaire revealed only 22.5% of patients were fully adherent to therapy, suggesting that alternative therapies are needed. This real-world study, even though is highly enriched with hepatic patients and mild disease, shows that WD impacts patients' HRQoL, especially in the emotional domain.

Automated summary

Wilson disease (WD) is a rare copper metabolism disorder caused by gene mutations. This study assessed the impact of WD on patients' health-related quality of life (HRQoL), treatment adherence, drug preference, and healthcare resource utilization. The results showed that about 30% of patients experienced a deterioration in emotional status, especially in those with neurological or mixed involvement. Although most patients were satisfied with their current treatment, many expressed dissatisfaction due to having to take too many pills, indicating a need for more patient-friendly therapies. This study highlights the importance of considering the emotional domain in assessing the HRQoL of WD patients.