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Review
. 2024 May 31;13(2):73-88.
doi: 10.5582/irdr.2024.01001.

Epidemiology and distribution of 207 rare diseases in China: A systematic literature review

Yukun Wang  1 , Yicheng Liu  1 , Guoyao Du  1 , Yonghui Liu  1 , Ying Zeng  1
Affiliations
Review

Epidemiology and distribution of 207 rare diseases in China: A systematic literature review

Yukun Wang et al. Intractable Rare Dis Res. .

Abstract

Epidemiological data on rare diseases in China are currently limited. The objective of this study was to provide a comprehensive understanding of the prevalence and incidence of rare diseases by systematically analyzing the available epidemiological data. We conducted a comprehensive search of English and Chinese databases, the Incidence and Prevalence Database, the Chinese Rare Disease Guideline, and the Taiwan Health Promotion Administration from 2010 to 2023. We identified the top diseases and regions based on epidemiological data and present the maximum, minimum, and median prevalence and incidence values in tables and forest plots. 1,264 prevalence and incidence data were retrieved from 277 studies, guidelines and official websites, covering 110 rare diseases (53.1%) and 32 regions (94.1%). In terms of geographical regions, incidence or prevalence data were available for 32 regions (94.1%), excluding Tibet Hui Autonomous Region and Macao Special Administrative Region. In terms of rate, 60 and 77 out of 207 diseases (29.0% and 37.2%) had available incidence and prevalence data, respectively. Eight diseases had an incidence rate equal to or greater than that of 1,000 patients per million. The present study provides a comprehensive epidemiological analysis and valuable insights into the prevalence and incidence of rare diseases in China. Our findings underscore the pressing need for sustained drug research and medical support for individuals and families impacted by rare diseases.

Keywords: China; epidemiology; rare disease.

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Conflict of interest statement

This work was supported by a grant from Innovation and entrepreneurship projects in Shanghai, China (S202210247117).The authors have no conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
Study flow diagram. Abbreviations: CNKI, China National Knowledge Infrastructure.
Figure 2.
Figure 2.
Incidence and prevalence rates of RDs. (A) Incidence rates of RDs; (B) Prevalence rates of RDs. Abbreviations: RDs, rare diseases; PPM, patients per million. Notes: The black points represent the medians, and the two ends of the line represent the extreme values. A line is displayed when the amount of data is no less than 3 and the data are not approximately within the range. The data were not available if there are no data for the disease.
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