Abstract
Perceived fatigue is a prominent symptom in patients with mitochondrial disease but to date its prevalence, impact and aetiology are poorly understood. Our aim was to determine the prevalence and assess for comorbidities associated with clinically relevant fatigue in patients with mitochondrial disease. A cross-sectional postal survey of patients with mitochondrial disease was undertaken using a validated self-completion, patient-reported outcome measures (response rate: 60%; n = 132). The prevalence and perceived functional impact of experienced fatigue were assessed using the Fatigue Impact Scale. Other putative biological mechanisms were evaluated using the Hospital Anxiety Depression scale and Epworth sleepiness scale. Data were compared with those for healthy control subjects and patients with Myalgic Encephalopathy/Chronic Fatigue Syndrome matched for age and gender. Sixty-two per cent of patients with mitochondrial disease reported excessive symptomatic fatigue (Fatigue Impact Scale ≥ 40); whilst 32% reported severe, functionally limiting fatigue symptoms (Fatigue Impact Scale ≥ 80) comparable to perceived fatigue in patients with Myalgic Encephalopathy/Chronic Fatigue Syndrome. Fatigue is common and often severe in patients with mitochondrial disease irrespective of age, gender or genotype. Future evaluation of causal factors in mitochondrial disease-associated fatigue is warranted with the potential to guide future treatment modalities.
Highlights
Perceived fatigue is a prominent and often debilitating symptom in patients with mitochondrial disease yet the prevalence, impact and aetiology of fatigue are poorly understood
Disease, whilst evaluating putative biological mechanisms that have been recognised in other neurological disorders and chronic disease states
Healthy control subjects (n = 132) were Control subjects recruited through notices in local press and hospitals asking for volunteers to participate in research projects, with no selection made for the presence or absence of fatigue and were matched for age and gender
Summary
Perceived fatigue is a prominent and often debilitating symptom in patients with mitochondrial disease yet the prevalence, impact and aetiology of fatigue are poorly understood. We define perceived fatigue as an overwhelming sense of tiredness, lack of energy or feeling of exhaustion [1] employing a multifactorial approach; distinguishing this from physiological fatigue in which the focus is muscle and its ability to generate and maintain power. The premise of this study was to determine the magnitude and impact of self-perceived fatigue in a large, genetically heterogeneous group of patients with mitochondrial disease, whilst evaluating putative biological mechanisms that have been recognised in other neurological disorders and chronic disease states
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