What causes erythromelalgia (EM)?

In secondary erythromelalgia, the condition is associated with an underlying neurological, autoimmune, or myeloproliferative disorder, while in primary EM, the disease occurs on its own. The exact cause of most cases of EM is not well known. In many cases people have underlying peripheral neuropathies. Research shows that EM may be caused by alterations in certain blood vessels, such as narrowing and widening. This can cause problems with blood flow to the extremities. 
In approximately 15% of cases, EM is caused by mutation in the SCN9A gene. This gene provides instructions for making part of the channel that carries sodium into cells to help them create and send electrical signals. Sodium channels are located in nerve cells and help to send pain signals to the brain and spine. When there is a mutation in the SCN9A gene, increased sending of pain signals can occur. The mutations can be inherited from a parent but can also occur in people with no family history. 
erythromelalgia (EM)

  • “Erythromelalgia.” National Institutes of Health National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center, n.d. Web. 29 Sep. 2017. 
  • “What is EM?” The Erythromelalgia Association. TEA, n.d. Web. 29 Sep. 2017. 



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