Internal Medicine Residency Program, University of Toronto, Toronto, ON, Canada.
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Genet Med. 2020 Jan;22(1):132-141. doi: 10.1038/s41436-019-0603-1. Epub 2019 Jul 31.
Multimorbidity is increasing in younger adults but is understudied in this population. We used 22q11.2 deletion syndrome (22q11.2DS) as a genetic model to investigate multimorbidity in young to middle-aged adults.
Using the Anatomical Therapeutic Chemical (ATC) Classification System and setting five or more concurrent prescription medications as a proxy for multimorbidity, we compared data on 264 adults with 22q11.2DS (median age 27.8, range 17.3-68.3 years) with that for a community-based Canadian general population sample (n = 25,287). We used logistic regression to examine possible predictors of multimorbidity in 22q11.2DS.
Multimorbidity in 22q11.2DS in the 25-44 year age group (34.7%) was significantly more prevalent than in the general population, both for the same age group (2.9%, prevalence ratio [PR] = 11.9, 95% CI 8.4-17.1) and compared with those aged 45-64 years (16.4%, PR = 2.1, 95% CI 1.6-2.7). Neuropsychiatric and endocrinological medication classes predominated. Within 22q11.2DS, older age and psychotic illness, but not sex, major congenital heart disease, or intellectual disability, were significant predictors of multimorbidity.
The results indicate that adults with 22q11.2DS have a significant burden of illness with levels of multimorbidity comparable with those of the general population several decades older. In younger adults with multimorbidity, certain disease patterns may help identify genetic disorders in "big data."
多种疾病在年轻人中不断增加,但在该人群中研究较少。我们使用 22q11.2 缺失综合征(22q11.2DS)作为遗传模型,研究年轻至中年成年人的多种疾病。
使用解剖治疗化学(ATC)分类系统,并将五种或更多同时处方药物作为多种疾病的替代指标,我们比较了 264 名 22q11.2DS 患者(中位年龄 27.8 岁,范围 17.3-68.3 岁)的数据与基于社区的加拿大一般人群样本(n=25287)。我们使用逻辑回归分析 22q11.2DS 中多种疾病的可能预测因素。
22q11.2DS 中 25-44 岁年龄组的多种疾病(34.7%)明显比一般人群更为普遍,无论是与同年龄组(2.9%,患病率比[PR]=11.9,95%置信区间 8.4-17.1)还是与 45-64 岁年龄组相比(16.4%,PR=2.1,95%置信区间 1.6-2.7)。神经精神和内分泌药物类别为主。在 22q11.2DS 内,年龄较大和精神病,但不是性别、主要先天性心脏病或智力残疾,是多种疾病的显著预测因素。
结果表明,22q11.2DS 成人患者的疾病负担很大,多种疾病的发病率与一般人群几十年前相当。在多种疾病的年轻成年人中,某些疾病模式可能有助于在“大数据”中识别遗传疾病。