Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

• Published in: Neuromuscular disorders : NMD Vol. 25; no. 7; pp. 563 - 566
• Main Authors: Gorman, Gráinne S., Elson, Joanna L., Newman, Jane, Payne, Brendan, McFarland, Robert, Newton, Julia L., Turnbull, Douglass M.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.07.2015; Pergamon Press
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Anxiety; Depression; Disorders of Excessive Somnolence - epidemiology; Disorders of Excessive Somnolence - genetics; Disorders of Excessive Somnolence - physiopathology; Fatigue; Fatigue - epidemiology; Fatigue - genetics; Fatigue - physiopathology; Female; Genotype; Humans; Male; Middle Aged; Mitochondria; Mitochondrial Diseases - epidemiology; Mitochondrial Diseases - genetics; Mitochondrial Diseases - physiopathology; Mitochondrial Diseases - psychology; Muscle Weakness - epidemiology; Muscle Weakness - genetics; Muscle Weakness - physiopathology; Neurology; Perception; Prevalence; Severity of Illness Index; Sleep; Surveys and Questionnaires; Young Adult; Fatigue; Depression; Mitochondria; Anxiety; Sleep
• ISSN: 0960-8966; 1873-2364; 1873-2364
• DOI: 10.1016/j.nmd.2015.03.001

•Perceived fatigue is a prominent and often debilitating symptom in patients with mitochondrial disease.•Perceived fatigue correlates with disease severity but not genotype.•Excessive sleepiness is prevalent but dissociated with perceived fatigue in patients with mitochondrial disease.•Perceived fatigue does not correlate with NMDAS muscle weakness scores.•Our findings have important implications for targeting of pharmacological therapies. 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.