Chronic pain is common in mitochondrial disease.
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Authors
Fuge, Joshua
Pitceathly, Robert DS
Berry, Sarah
McIntyre, Zoe
Hanna, Michael G
Publication Date
2020-05Journal Title
Neuromuscul Disord
ISSN
0960-8966
Publisher
Elsevier BV
Volume
30
Issue
5
Pages
413-419
Language
eng
Type
Article
This Version
AM
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
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.. Neuromuscul Disord, 30 (5), 413-419. https://doi.org/10.1016/j.nmd.2020.02.017
Abstract
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 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 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. Therefore, pain-related symptoms should be carefully characterised and actively managed in this patient population.
Keywords
Humans, Neuralgia, Mitochondrial Diseases, Prevalence, Quality of Life, Adolescent, Adult, Aged, Middle Aged, Female, Male, Young Adult, Chronic Pain, United Kingdom
Sponsorship
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.
Funder references
Wellcome Trust (105839/Z/14/Z)
Wellcome Trust (212219/Z/18/Z)
Identifiers
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
Rights
Attribution-NonCommercial-NoDerivatives 4.0 International
Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/
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