Rates of perceived fatigue, anxiety, depression, sleepiness and mitochondrial disease severity were assessed prospectively in 2017-2018 using established validated questionnaires in 48 adult patients with genetically confirmed primary mitochondrial disease. Fatigue was found to be very common among patients with primary mitochondrial disease, with 34 to 48 (71-100%) patients reporting fatigue depending on the measure used, and the severity of fatigue correlating with the severity of disease. Moderate-to-severe depression (10/48; 20.8%) anxiety (28/48; 58.3%) and sleep problems (16/48; 33.3%) were frequent in our patients with fatigue and these conditions were even more prevalent in those with severe fatigue. In conclusion, perceived fatigue was common in patients with primary mitochondrial disease and appeared to correlate with disease severity. Depression, anxiety and sleep disorders were more common in the cohort than those with other chronic diseases but with rates similar to that seen in multiple sclerosis. The severity of perceived fatigue correlated with an increased risk of these comorbid conditions. The Fatigue Severity Scale may more selectively measure non-anxiety/sleep-related fatigue in primary mitochondrial disease and additional testing is planned.

中文翻译：

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原发性遗传性线粒体疾病的疲劳：疲倦的人没有休息

在 2017 年至 2018 年期间，使用既定的经过验证的问卷调查，对 48 名经基因证实患有原发性线粒体疾病的成年患者的感知疲劳、焦虑、抑郁、嗜睡和线粒体疾病严重程度的发生率进行了前瞻性评估。发现原发性线粒体病患者的疲劳非常普遍，根据所使用的测量方法，有 34 至 48（71-100%）名患者报告疲劳，并且疲劳的严重程度与疾病的严重程度相关。中度至重度抑郁症 (10/48; 20.8%) 焦虑症 (28/48; 58.3%) 和睡眠问题 (16/48; 33.3%) 在我们的疲劳患者中很常见，这些情况在这些患者中更为普遍严重疲劳。总之，感知疲劳在原发性线粒体疾病患者中很常见，并且似乎与疾病严重程度相关。与其他慢性病患者相比，该队列中的抑郁、焦虑和睡眠障碍更常见，但发生率与多发性硬化症相似。感知疲劳的严重程度与这些合并症的风险增加相关。疲劳严重程度量表可以更有选择性地测量原发性线粒体疾病中的非焦虑/睡眠相关疲劳，并计划进行额外的测试。