Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Orphanet J Rare Dis. 2018 Nov 13;13(1):203. doi: 10.1186/s13023-018-0951-y.
Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so leaving patients with considerable uncertainty regarding their prognosis and treatment possibilities. This could easily result in fear of disease progression. This study investigated the presence of this fear and its correlates with genetic characteristics and clinical disease severity in m.3243A > G carriers.
In total 125 eligible m.3243A > G mutation carriers were invited to participate in this cross-sectional study. After informed consent, participants completed questionnaires including items on socio-demographics, fear of progression, depression, anxiety, and quality of life. Clinical disease severity was assessed by the NMDAS questionnaire. Heteroplasmy levels were assessed in leucocytes, urine epithelial cells and buccal mucosa.
Seventy-six carriers participated in this study. Results showed that 18% reported high fear of progression. Fear of progression was significantly related to all domains of quality of life. Furthermore, fear of progression was moderately correlated with feelings of depression (r = .37), and anxiety (r = .44). Patients with moderate or severe clinical symptoms on the NMDAS experienced more fear of progression than patients with mild clinical symptoms. Fear of progression was weakly correlated with heteroplasmy in leucocytes (r = .27) and buccal mucosa (r = .31).
A substantial part of m.3243A > G mutation carriers experience high levels of fear of progression which coincide with significantly lower quality of life. Only a small relation with disease characteristics was found. The impact of receiving a diagnosis without therapeutic possibilities on fear is important to consider.
由于 m.3243A>G 突变而被诊断为线粒体疾病，通常需要经过漫长的诊断过程。该疾病本身的病程和表现具有异质性，因此患者对预后和治疗可能性存在很大的不确定性。这很容易导致对疾病进展的恐惧。本研究调查了这种恐惧的存在及其与遗传特征和 m.3243A>G 携带者临床疾病严重程度的相关性。
共邀请了 125 名符合条件的 m.3243A>G 突变携带者参加这项横断面研究。在获得知情同意后，参与者完成了包括社会人口统计学、对进展的恐惧、抑郁、焦虑和生活质量等项目的问卷。临床疾病严重程度通过 NMDAS 问卷进行评估。异质性水平在白细胞、尿上皮细胞和口腔黏膜中进行评估。
76 名携带者参加了这项研究。结果表明，18%的携带者报告了高度的进展恐惧。对进展的恐惧与生活质量的所有领域都显著相关。此外，对进展的恐惧与抑郁（r=0.37）和焦虑（r=0.44）的感觉中度相关。NMDAS 上有中度或重度临床症状的患者比有轻度临床症状的患者经历了更多的进展恐惧。对进展的恐惧与白细胞（r=0.27）和口腔黏膜（r=0.31）中的异质性呈弱相关。
相当一部分 m.3243A>G 突变携带者经历了高水平的对进展的恐惧，这与显著较低的生活质量相吻合。仅发现与疾病特征有很小的关系。考虑到没有治疗可能性的诊断对恐惧的影响很重要。
