Verhaak Christianne, de Laat Paul, Koene Saskia, Tibosch Marijke, Rodenburg Richard, de Groot Imelda, Knoop Hans, Janssen Mirian, Smeitink Jan
Department of Medical Psychology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Orphanet J Rare Dis. 2016 Mar 18;11:25. doi: 10.1186/s13023-016-0403-5.
Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with patient reported quality of life and other patient reported outcomes is still unexplored.
Seventy-two out of the 122 invited adult patients with m.3243A > G mutation completed online standardized questionnaires on quality of life, functional impairment, fatigue and mental health as assessed by the RAND-SF36, the Sickness Impact Profile (SIP), the Checklist Individual Strength (CIS) and the Hospital Anxiety and Depression scale (HADS). Data were related to clinical manifestation reflected by the Newcastle Mitochondrial Disease Adult Scale (NMDAS) score and heteroplasmy levels of the mutation in urine epithelial cells.
Patients reported impaired quality of life. Sixty percent showed severe levels of fatigue, and 37% showed clinical relevant mental health problems, which was significantly more than healthy norms. These patient reported health outcomes showed negligible relationship with levels of heteroplasmy (r = <.30) and weak (.30 < r < .50) to moderate (.50 < r < .70) relationship with clinical manifestation.
Patient reported outcomes on quality of life, fatigue and mental health problems, are only partly reflected by clinical assessments. In order to support patients more effectively, integration of patient reported outcomes, alongside symptoms of their disease, in clinical practice is warranted.
线粒体疾病是最常见的遗传性代谢疾病之一，m.3243A > G突变是线粒体DNA中最常见的突变之一。先前的研究表明线粒体遗传学与疾病表现之间关系不大。基因型与疾病表现以及患者报告的生活质量和其他患者报告结果之间的关系仍未得到探索。
122名受邀的成年m.3243A > G突变患者中有72名完成了关于生活质量、功能损害、疲劳和心理健康的在线标准化问卷，这些问卷由兰德-36健康调查简表（RAND-SF36）、疾病影响量表（SIP）、个人力量清单（CIS）和医院焦虑抑郁量表（HADS）进行评估。数据与由纽卡斯尔线粒体疾病成人量表（NMDAS）评分反映的临床表现以及尿上皮细胞中突变的异质性水平相关。
患者报告生活质量受损。60%的患者表现出严重程度的疲劳，37%的患者表现出临床相关的心理健康问题，这显著高于健康标准。这些患者报告的健康结果与异质性水平的关系微不足道（r = <0.30），与临床表现的关系较弱（0.30 < r < 0.50）至中等（0.50 < r < 0.70）。
患者报告的生活质量、疲劳和心理健康问题结果仅部分由临床评估反映。为了更有效地支持患者，在临床实践中纳入患者报告结果以及他们的疾病症状是有必要的。
