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Chronic pain is common in mitochondrial disease
Jelle van den Ameele1, Joshua Fuge2, Robert D S Pitceathly3
1Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; WT/CRUK Gurdon Institute, Tennis Court Road, Cambridge CB2 1QN, UK.
Neuromuscular Disorders : NMD
|April 27, 2020
Summary
Chronic pain is common in mitochondrial disease, often neuropathic. While not impacting quality of life, genotype influences pain severity and type, necessitating active management.
Area of Science:
- Neurology
- Genetics
- Pain Medicine
Background:
- Mitochondrial diseases lack cures, focusing management on symptom control.
- Pain's impact on quality of life is known, but its prevalence in mitochondrial disease is unclear.
Purpose of the Study:
- To determine the prevalence and nature of pain in patients with genetically confirmed mitochondrial disease.
- To investigate the relationship between genotype and pain characteristics.
Main Methods:
- A survey of pain symptoms was conducted in patients from two UK specialist centers.
- Genetic confirmation of mitochondrial disease was required for participation.
Main Results:
- The majority of patients (66.7%) reported chronic pain, predominantly neuropathic.
- Pain presence did not significantly affect overall quality of life.
- The m.3243A>G MTTL1 mutation correlated with increased pain severity and neuropathic pain likelihood.
Conclusions:
- Pain is a common, often neuropathic, manifestation in mitochondrial disease, influenced by genetic mutations.
- Pain management should be a key consideration in patient care, despite not impacting overall quality of life in this cohort.
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