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

Abstract

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.

Internalizing and externalizing behaviors in children and adolescents with Wilson's disease in the context of quality of life

“…In this study, the authors want to explore the mechanism of emotional expression in the study group of children and adolescents with WD and the potential impact on the level of QoL. In another study 12 on the QoL of WD patients, it was found that as many as 30% of patients reported a deterioration in their emotional state with accompanying anxiety and depression. The results of this study indicated that WD affects patients' health-related quality of life (HRQoL), particularly in the emotional aspect.…”