Chronic pain is common in mitochondrial disease.
Van Den Ameele, Jelle
Hanna, Michael G
Neuromuscular disorders : NMD
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Van Den Ameele, J., Fuge, J., Pitceathly, R. D., Berry, S., McIntyre, Z., Hanna, M. G., Lee, M., & et al. (2020). Chronic pain is common in mitochondrial disease.. Neuromuscular disorders : NMD, 30 (5), 413-419. https://doi.org/10.1016/j.nmd.2020.02.017
In the absence of cure, the main objectives in the management of patients with mitochondrial disease are symptom control and prevention of complications. While pain is a complicating symptom in many chronic diseases and is known to have a clear impact on quality of life, its prevalence and severity in people with genetically confirmed mitochondrial disease is unknown. We conducted a survey of pain symptoms in patients with genetically confirmed mitochondrial disease from two UK mitochondrial disease specialist centres. The majority (66.7%) of patients had chronic pain which was primarily of neuropathic nature. Presence of pain did not significantly impact overall quality of life. The m.3243A>G MTTL1 mutation was associated with higher overall pain severity and increased the likelihood of neuropathic pain compared to other causative nuclear and mitochondrial gene mutations. Although previously not considered a core symptom in people with mitochondrial disease, pain is a common clinical manifestation, frequently of neuropathic nature, and influenced by genotype. Given the impact on quality of life and treatment options available, pain-related symptoms should be carefully characterised and actively managed in this patient population.
JvdA was supported by an EMBO Long-term Fellowship (ALTF 1600_2014) and a Wellcome Trust Postdoctoral Training Fellowship for Clinicians (105839). RDSP is supported by a Medical Research Council Clinician Scientist Fellowship (MR/S002065/1). PFC is a Wellcome Trust Principal Research Fellow (212219/Z/18/Z), and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UU_00015/9), the Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease, the Evelyn Trust, and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge.
WELLCOME TRUST (105839/Z/14/Z)
Wellcome Trust (212219/Z/18/Z)
External DOI: https://doi.org/10.1016/j.nmd.2020.02.017
This record's URL: https://www.repository.cam.ac.uk/handle/1810/302802
Attribution-NonCommercial-NoDerivatives 4.0 International
Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/