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Chronic pain is common in mitochondrial disease.

Accepted version
Peer-reviewed

Type

Article

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Authors

van den Ameele, Jelle 
Fuge, Joshua 
Pitceathly, Robert DS 
Berry, Sarah 
McIntyre, Zoe 

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.

Description

Keywords

Genetics, Mitochondria, Mitochondrial disorders, Neuropathy, Pain, Adolescent, Adult, Aged, Chronic Pain, Female, Humans, Male, Middle Aged, Mitochondrial Diseases, Neuralgia, Prevalence, Quality of Life, United Kingdom, Young Adult

Journal Title

Neuromuscul Disord

Conference Name

Journal ISSN

0960-8966
1873-2364

Volume Title

30

Publisher

Elsevier BV
Sponsorship
Wellcome Trust (105839/Z/14/Z)
Wellcome Trust (212219/Z/18/Z)
Medical Research Council (MC_UU_00015/7)
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.