背景:罕见疾病(RD)影响全球数百万人,在各个方面给患者和家庭带来了巨大的负担。然而,缺乏证据表明,在不同的研发机构中,有针对性地制定社会和卫生政策,以满足这一弱势群体未满足的需求。
目的:本研究旨在研究中国33种不同疾病的健康和经济负担的基本模式,并确定潜在的决定因素。
方法:2019年至2020年在中国进行了一项基于互联网的全国横断面调查。通过与健康相关的生活质量来衡量身心健康负担。经济负担根据直接医疗的比例进行评估,直接非医疗,以及相对于家庭收入的间接成本。我们使用聚类分析来确定健康和经济负担的模式,并进行了多项逻辑回归来探索聚类成员的潜在预测因素。
结果:该研究包括8454名成年人和8491名儿童,他们受到33个RD的影响。确定了以下3个集群:“极高负担”(代表92/8454,1.1%和19/8491,0.2%的成人和儿科患者,分别),“整体高负担”(5933/8454,70.2%和4864/8491,57.3%,分别),和“总体低负担”(2429/8454,28.7%和3608/8491,42.5%,分别)。威尔逊病,马凡氏综合征,朗格汉斯细胞组织细胞增生症比其他人更有可能导致“极高的负担”。贫穷与处于这一负担极高的群体密切相关。引起神经肌肉症状并需要长期治疗的疾病(例如,肌萎缩侧索硬化,脊髓小脑共济失调,和Dravet综合征)在“总体高负担”组中普遍存在。该组的主要预测因素包括年龄较大,较低的社会经济地位,诊断延迟,和合并症。
结论:这项研究为中国等发展中地区的RD负担提供了新颖而有价值的证据。研究结果表明,RD的影响存在显著差异,强调需要有针对性的卫生保健干预措施和政策。
BACKGROUND: Rare diseases (RDs) affect millions of individuals collectively worldwide, contributing to significant burdens on patients and families in various aspects. However, there is a lack of evidence on the underlying patterns of burdens among diverse RDs for informing targeted social and health policies to address the unmet needs of this vulnerable population.
OBJECTIVE: This study aimed to examine the underlying patterns of the health and economic burden of 33 different RDs in China and identify the potential determinants.
METHODS: A nationwide internet-based cross-sectional survey was conducted in China between 2019 and 2020. Physical and mental health burden was measured by health-related quality of life. Economic burden was evaluated based on the proportions of direct medical, direct nonmedical, and indirect costs relative to household income. We used cluster analysis to identify patterns of health and economic burdens and conducted multinomial logistic regression to explore potential predictors of cluster membership.
RESULTS: The study included 8454 adults and 8491 children affected by 33 RDs. The following 3 clusters were identified: \"extremely high burden\" (representing 92/8454, 1.1% and 19/8491, 0.2% of adult and pediatric patients, respectively), \"overall high burden\" (5933/8454, 70.2% and 4864/8491, 57.3%, respectively), and \"overall low burden\" (2429/8454, 28.7% and 3608/8491, 42.5%, respectively). Wilson disease, Marfan syndrome, and Langerhans cell histiocytosis more likely resulted in an \"extremely high burden\" than others. Poverty was significantly associated with being in this extremely high burden group. Diseases causing neuromuscular symptoms and requiring long-term treatment (eg, amyotrophic lateral sclerosis, spinocerebellar ataxia, and Dravet syndrome) were prevalent in the \"overall high burden\" group. Key predictors of this group included older age, lower socioeconomic status, diagnostic delay, and comorbidity.
CONCLUSIONS: This study provides novel and valuable evidence on the burden of RDs in developing regions like China. The findings reveal significant disparities in the impact of RDs, emphasizing the need for targeted health care interventions and policies.