Clinical Features, Disease Burden and Impact on Quality of Life in Patients with Mitochondrial Encephalomyopathy

Background Mitochondrial encephalomyopathy (ME) significantly impacts patient quality of life (QoL) and imposes burdens on caregivers. This study examined disease burden, financial strain, QoL, disability levels, and caregiver burden among patients with ME to identify critical relationships. Methods A cross-sectional study was conducted on ME patients and caregivers at Haikou Affiliated Hospital of Xiangya Medical College, Central South University, utilising validated scales including CHU-9D, PedsQL, PHQ-9, and CBI to evaluate disease burden, QoL, disability, and caregiver burden. Data were analysed using descriptive statistics and correlation coefficients to assess the relationships between these factors. Results A total of 27 patients with ME were identified, with a mean age of 10.14 years, 88.9% of whom were children. The cohort comprised 18 (66.7%) males and 9 (33.3%) females, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Leigh syndrome were the most common subtypes. Significant correlations were found between QoL scores and caregiver burden, with CHU-9D showing negative correlations with PHQ-9 and CBI and positive correlations with PedsQL and health utility scores. Additionally, 44.4% of patients reported severe financial burdens, and 57.7% of caregivers experienced moderate to severe levels of burden. Conclusion Our findings highlight the complex relationships between financial strain, QoL, and caregiver burden in ME. This underscores the need for comprehensive, patient-centered care and targeted policy interventions to alleviate patient and caregiver burdens. Further research is essential to develop effective support systems and improve overall outcomes.