Rosella Laura C, Hurst Mackenzie, Buajitti Emmalin, Samson Thomas, Young L Trevor, Andreazza Ana C
Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.
ICES UofT, ICES, Toronto, Canada.
Orphanet J Rare Dis. 2025 Apr 14;20(1):177. doi: 10.1186/s13023-025-03688-2.
Mitochondrial disease has been linked to mental health disorder in clinical cohorts and post-mortem studies. However, a lack of population-level studies examining the relationship between mitochondrial disease and mental health has resulted in an evidence gap and creates a challenge for identifying and addressing care needs for the mitochondrial disease population. Using multiple linked population health databases in a single-payer health system that covers the full population, this study aimed to investigate the prevalence of mood disorders and other mental health conditions in patients with mitochondrial disease and to examine the joint impact of mitochondrial disease and mental health conditions on healthcare use and health system costs. To contextualize these findings, a clinical comparator cohort of multiple sclerosis (MS) patients was analyzed.
Overall, co-prevalent mental health conditions are common in the mitochondrial population. Double the proportion of patients in the mitochondrial disease cohort had a co-prevalent mental health illness as compared to the MS population (18% vs 9%). Healthcare utilization was highest among patients with co-prevalent mitochondrial disease and mental illness, with 49% hospitalized within 1 year prior to cohort entry (compared to 12% of MS patients with no mental health condition). Costs were likewise highest among mitochondrial disease patients with mental health conditions.
This study presents the first comprehensive, population-wide cohort study of mitochondrial disease and co-prevalent mental health conditions. Our findings demonstrate a high burden of mental health conditions among mitochondrial disease patients, with high associated health care needs. We also find that patients with concurrent mental illness and mitochondrial disease represent a high-burden, high-cost population in a single-payer health insurance setting.
在线粒体疾病患者队列研究及尸检研究中，线粒体疾病已被证实与精神健康障碍有关。然而，目前缺乏针对线粒体疾病与精神健康之间关系的人群水平研究，这导致了证据缺口，也给确定和满足线粒体疾病患者的护理需求带来了挑战。本研究利用单一支付者医疗系统中多个相互关联的人群健康数据库（该系统覆盖全体人群），旨在调查线粒体疾病患者中情绪障碍及其他精神健康状况的患病率，并研究线粒体疾病和精神健康状况对医疗服务利用及卫生系统成本的联合影响。为更好地理解这些研究结果，对一个多发性硬化症（MS）患者的临床对照队列进行了分析。
总体而言，线粒体疾病患者群体中精神健康状况共病很常见。与MS患者群体相比，线粒体疾病队列中有共病精神健康疾病的患者比例高出一倍（18%对9%）。在线粒体疾病和精神疾病共病的患者中，医疗服务利用率最高，在队列入组前1年内，49%的患者住院（相比之下，无精神健康问题的MS患者中这一比例为12%）。同样，患有精神健康问题的线粒体疾病患者的成本也最高。
本研究首次对线粒体疾病和共病精神健康状况进行了全面的全人群队列研究。我们的研究结果表明，线粒体疾病患者的精神健康负担很重，相关医疗需求也很高。我们还发现，患有精神疾病和线粒体疾病的患者在单一支付者医疗保险环境中是一个高负担、高成本的群体。
