Department of Medical Psychology, Radboud University Medical Center, Radboud Institute for Health Sciences, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.
Department of Pediatrics, Radboud university medical center, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.
J Inherit Metab Dis. 2022 Nov;45(6):1130-1142. doi: 10.1002/jimd.12546. Epub 2022 Aug 24.
Severe fatigue is a common complaint in patients with primary mitochondrial disease. However, less is known about the course of fatigue over time. This longitudinal observational cohort study of patients with the mitochondrial DNA 3243 A>G variant explored trajectories of fatigue over 2 years, and characteristics of patients within these fatigue trajectories. Fifty-three adult patients treated at the Radboud University Medical Center Nijmegen were included. The majority of the patients reported consistent, severe fatigue (41%), followed by patients with a mixed pattern of severe and mild fatigue (36%). Then, 23% of patients reported stable mild fatigue levels. Patients with a stable high fatigue trajectory were characterized by higher disease manifestations scores, more clinically relevant mental health symptoms, and lower psychosocial functioning and quality of life compared to patients reporting stable low fatigue levels. Fatigue at baseline and disease manifestation scores predicted fatigue severity at the 2-year assessment (57% explained variance). This study demonstrates that severe fatigue is a common and stable complaint in the majority of patients. Clinicians should be aware of severe fatigue in patients with moderate to severe disease manifestation scores on the Newcastle Mitochondrial Disease Scale, the high prevalence of clinically relevant mental health symptoms and overall impact on quality of life in these patients. Screening of fatigue and psychosocial variables will guide suitable individualized treatment to improve the quality of life.
严重疲劳是原发性线粒体疾病患者的常见主诉。然而，关于疲劳随时间的变化过程知之甚少。本项对线粒体 DNA 3243 A>G 变异患者进行的为期 2 年的纵向观察性队列研究，探讨了疲劳的轨迹，并分析了具有这些疲劳轨迹的患者的特征。该研究纳入了在 Radboud 大学医学中心尼美根治疗的 53 名成年患者。大多数患者报告持续存在严重疲劳（41%），其次是严重和轻度疲劳混合模式的患者（36%）。然后，23%的患者报告稳定的轻度疲劳水平。与报告稳定低疲劳水平的患者相比，具有稳定高疲劳轨迹的患者的疾病表现评分更高，有更多与临床相关的心理健康症状，心理社会功能和生活质量更低。基线时的疲劳和疾病表现评分可预测 2 年评估时的疲劳严重程度（解释了 57%的方差）。这项研究表明，严重疲劳是大多数患者的常见且稳定的主诉。对于纽卡斯尔线粒体疾病量表上中至重度疾病表现评分的患者，临床相关心理健康症状的高患病率以及这些患者的整体生活质量受到影响，临床医生应意识到严重疲劳的问题。对疲劳和心理社会变量的筛查将指导合适的个体化治疗，以提高生活质量。
