Wilson's disease (WD), a rare genetic disorder responsible for copper accumulation in the body, is fatal if left untreated. Although there are effective treatments, adherence to treatment tends to be low. We evaluated the medication adherence of 139 patients using the Morisky scale. Adherence was correlated with age at diagnosis and at inclusion in the study, the form of the disease, the treatment, the duration of treatment, delivery and storage problems, depression, anxiety, the level of education, and the biological data. 32.4% of the patients had low adherence; their levels of exchangeable copper were significantly higher than those of the patients with high or medium adherence (P = .049). The average age of the patients at the time of the study was significantly higher in those with high adherence than in those with medium or low adherence (P = .043). 75.9% of the patients with high adherence had a neurological form and 26.7% of the patients with low adherence were asymptomatic (P = .0090). The duration of treatment was significantly longer in the patients with high adherence than in those with medium or low adherence (P = .0192). The type of treatment (chelators or zinc) had no impact on the level of adherence. Forty-four percent of the patients experienced problems dispensing and storing medications. Despite the availability of effective treatments for this rare disease, adherence problems occur with Wilson's disease in particular in asymptomatic patients. Although different factors are involved, sustained multidisciplinary management on a case-by-case basis is necessary.

中文翻译：

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坚持治疗，即使在可治疗的代谢性罕见病中也是一个挑战：威尔逊病的横断面研究

威尔逊氏病 (WD) 是一种罕见的导致体内铜积累的遗传疾病，如果不及时治疗会致命。尽管有有效的治疗方法，但对治疗的依从性往往很低。我们使用 Morisky 量表评估了 139 名患者的药物依从性。依从性与诊断和纳入研究的年龄、疾病的形式、治疗、治疗的持续时间、分娩和储存问题、抑郁、焦虑、教育水平和生物学数据相关。32.4%的患者依从性低；可交换铜水平显着高于高、中依从性患者（P = .049)。高依从性患者在研究时的平均年龄显着高于依从性中等或低的患者（P  = .043）。75.9% 的高依从性患者有神经系统症状，26.7% 的低依从性患者无症状 ( P  = .0090)。依从性高的患者的治疗时间明显长于依从性中等或低的患者（P = .0192)。治疗类型（螯合剂或锌）对依从性水平没有影响。44% 的患者在分配和储存药物时遇到问题。尽管有针对这种罕见疾病的有效治疗方法，但威尔逊病仍存在依从性问题，尤其是在无症状患者中。尽管涉及不同的因素，但需要根据具体情况进行持续的多学科管理。