Chronic pain is common in mitochondrial disease

Jelle Van Den Ameele,Joshua Fuge,Robert D.S Pitceathly,Sarah Berry,Zoe Mcintyre,Michael G Hanna,Michael Lee,Patrick F Chinnery

doi: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.

Highlights

Mitochondrial diseases are genetic disorders caused by mutations in the mitochondrial and nuclear genomes that cause dysfunction of oxidative phosphorylation and affect approximately 1 in 5000 people in the UK [1]
The majority (26/39, 66.7%) had experienced chronic pain in the last six months, distinct from minor headaches, sprains and toothaches (Fig. 1B). This is significantly higher than the general population in the UK (p = 0.00034; Fisher’s exact test), where about 1/3 (3202/8599) reports chronic pain lasting longer than 3 months [7]
Our findings show that chronic pain is prevalent among patients with mitochondrial disease and its presence is significantly higher than the general population

Summary

Introduction

Mitochondrial diseases are genetic disorders caused by mutations in the mitochondrial and nuclear genomes that cause dysfunction of oxidative phosphorylation and affect approximately 1 in 5000 people in the UK [1]. Pain has been reported in series of patients with mitochondrial disease, related to myopathy [4], neuropathy [5] and headache [6]. The prevalence, severity, impact on the quality of life and the genetic predisposition of chronic pain in this population is not fully known. Based on anecdotal experience of patients frequently reporting chronic pain symptoms, we conducted a service evaluation to survey pain in patients with genetically determined mitochondrial disease attending two specialist mitochondrial disease clinics in the UK

Methods

Results

Conclusion