Mariño Zoe, Berenguer Marina, Peña-Quintana Luis, Olveira Antonio, Miralpeix Anna, Sastre Isabel, Reyes-Domínguez Ana, Castillo Pilar, García-Solà Clàudia, Bono Ariadna, Romero Miriam, Pérez-Sádaba Francisco Javier, Aceituno Susana, Anguera Anna
Liver Unit, Hospital Clínic Barcelona, Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), European Reference Networks (ERN)-RARE Liver, University of Barcelona, 08007 Barcelona, Spain.
Department of Gastroenterology and Hepatology, Hospital Universitari i Politècnic La Fe, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Investigación Sanitaria (IIS La Fe), 46026 Valencia, Spain.
J Clin Med. 2023 Jul 21;12(14):4823. doi: 10.3390/jcm12144823.
Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the 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.
威尔逊病（WD）是一种由该基因突变引起的罕见铜代谢紊乱疾病。它通常影响年轻人，可导致肝脏和/或神经受累，可能影响健康相关生活质量（HRQoL）。在一项横断面、回顾性、多中心观察性研究中，我们评估了一组西班牙WD患者的HRQoL，并评估了疾病对患者生活的多个领域、治疗依从性、药物偏好和满意度以及医疗资源利用的影响。共纳入102例患者：81.4%表现为单纯肝脏受累（H组），18.6%表现为神经或混合受累（EH组）。高达30%的患者报告情绪状态因焦虑和抑郁而恶化，在EH亚组中更为严重；神经精神药物的使用率很高。超过70%的患者对当前治疗满意，但抱怨服药过多，表示如果有更方便患者的替代治疗，他们会考虑换药。简化药物依从性问卷显示，只有22.5%的患者完全坚持治疗，这表明需要替代疗法。这项真实世界研究尽管高度富集了肝脏疾病患者且病情较轻，但表明WD会影响患者的HRQoL，尤其是在情感领域。
