National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18.
The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature on rare disease numbers, in an attempt to demystify the subject. Specifically, we summarize data pertaining to: (a) known number and cumulative prevalence of rare diseases; (b) rare disease-associated mortality; (c) rare disease-associated morbidity, including numbers on health care services related to rare diseases; and (d) orphan drug numbers.
罕见病数量这一主题充斥着误解,不仅在网站和其他非专业文献中,在医学文献中也是如此。各种网站提到的数字都没有任何确凿数据的验证,而医学文献又将上述网站作为来源引用,从而使罕见病及其负担的一些神话得以延续。我们回顾了关于罕见病数量的现有文献,试图揭开这个主题的神秘面纱。具体来说,我们总结了以下几方面的数据:(a)已知罕见病的数量和累积患病率;(b)罕见病相关死亡率;(c)罕见病相关发病率,包括与罕见病相关的医疗服务数量;以及(d)孤儿药数量。
Am J Med Genet A. 2019-3-18
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