Accepted for/Published in: JMIR Public Health and Surveillance
Date Submitted: Feb 13, 2024
Date Accepted: Jul 23, 2024
Patterns of health and economic burden of 33 rare diseases in China: a nationwide web-based study
ABSTRACT
Background:
Rare diseases (RDs) affect millions of individuals collectively globally, contributing to significant burdens on patients and families in various aspects. However, there is a lack of evidence on the underlying pattern of burdens among diverse RDs that informs targeted social and health policies to address the unmet needs of this vulnerable population.
Objective:
This study examines the health and economic burden of 33 different RDs in China and identifies the underlying patterns and potential determinants.
Methods:
A nationwide Internet-based cross-sectional survey was conducted in China between 2019–2020. Physical and mental health burden was measured by health-related quality of life. Economic burden was evaluated based on proportions of direct medical, direct non-medical, and indirect cost relative to household income. We used cluster analysis to identify patterns of health and economic burdens and multinomial logistic regression to explore potential predictors of cluster membership.
Results:
8,454 adults and 8,491 children affected by 33 RDs were included. Three clusters were identified: “extremely high burden” (representing 1.1% and 0.2% of adult and pediatric patients, respectively), “overall high burden” (70.2% and 57.3%), and “overall low burden” (28.7% and 42.5%). Wilson disease, Marfan syndrome, and Langerhans cell histiocytosis more likely presented “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 (e.g., amyotrophic lateral sclerosis, spinocerebellar ataxias, Dravet syndrome) were prevalent in the “overall high burden” group. Key predictors of this group included older age, lower socio-economic 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 healthcare interventions and policies.
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