From the Guidelines
There is currently no strong scientific evidence establishing a direct correlation between fibromyalgia and MTHFR gene mutations. While some preliminary research suggests a possible association, the relationship remains unclear and controversial. MTHFR mutations affect folate metabolism and methylation processes in the body, which theoretically could influence pain perception, inflammation, and neurotransmitter function - all relevant to fibromyalgia symptoms. The most recent guidelines for the management of fibromyalgia, published in 2017 1, do not mention MTHFR mutations as a factor in the diagnosis or management of the condition.
Some studies have investigated the relationship between homocysteine levels, MTHFR mutations, and cardiovascular disease, but these findings are not directly applicable to fibromyalgia. For example, a 2011 study found that elevated homocysteine levels were associated with an increased risk of atherosclerotic vascular disease, including stroke 1. However, the relationship between homocysteine levels and fibromyalgia symptoms is not well established. A 2014 guideline for the primary prevention of stroke also discussed the role of homocysteine and MTHFR mutations in cardiovascular disease, but did not mention fibromyalgia 1.
Some practitioners recommend supplementation with methylated forms of B vitamins (particularly methylfolate and methylcobalamin) for fibromyalgia patients with MTHFR mutations, typically at doses of 400-1000 mcg of methylfolate daily. However, this approach is not universally accepted in mainstream medicine, and individual responses to supplementation may vary significantly. If you have both fibromyalgia and a confirmed MTHFR mutation, consult with healthcare providers knowledgeable about both conditions before starting any supplementation regimen. Genetic testing for MTHFR variants is available, but interpretation of results should be done carefully within the context of your overall health picture rather than as a definitive explanation for fibromyalgia symptoms.
Key points to consider:
- There is no strong evidence for a direct correlation between fibromyalgia and MTHFR gene mutations
- MTHFR mutations may affect folate metabolism and methylation processes, which could influence fibromyalgia symptoms
- Supplementation with methylated B vitamins may be recommended for some patients, but this approach is not universally accepted
- Individual responses to supplementation may vary significantly, and healthcare providers should be consulted before starting any regimen.
From the Research
Correlation between Fibromyalgia and MTHFR Mutation
- The study 2 found no statistically significant relation between MTHFR C677T mutation and fibromyalgia syndrome (FMS) (p>0.05, OR: 1.20,95% CI: 0.82-1.78).
- However, the same study found that dry eye and feeling of stiffness, which are among the clinical characteristics of FMS, were significantly related to MTHFR C677T mutation (p<0.05).
- Another study 3 discussed the controversy and clinical implications of MTHFR genetic testing, but did not provide direct evidence of a correlation between MTHFR mutation and fibromyalgia.
- Studies 4, 5, and 6 explored the association of MTHFR C677T mutation with various conditions, including endothelial dysfunction, homocysteinemia, psychiatric disorders, and limb defects, but did not specifically investigate its correlation with fibromyalgia.
Clinical Implications
- The available evidence suggests that MTHFR C677T mutation may be associated with certain clinical characteristics of fibromyalgia, such as dry eye and feeling of stiffness, but not with the syndrome as a whole.
- Further research is needed to fully understand the relationship between MTHFR mutation and fibromyalgia, as well as its potential clinical implications 2, 3.