Erythromelalgia

What causes erythromelalgia?

About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family.

In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.

Last updated on 05-01-20

How is erythromelalgia diagnosed?

There is no specific diagnostic test for most cases of erythromelalgia (EM), so making a diagnosis usually relies on symptoms, a clinical exam, and the medical history.

Testing that may be done to support a suspected diagnosis or rule out other medical disorders includes:

  • a complete blood count (CBC) with differential to search for evidence of a myeloproliferative disorder
  • imaging studies such as X-ray of the hands and feet, which typically show no specific findings
  • thermography, which may reveal elevated skin temperatures in affected areas (but this is not necessary for the diagnosis)
  • biopsy which may reveal characteristic findings in people with primary erythromelalgia

SCN9A-related inherited EM can be confirmed with genetic testing of the SCN9A gene.

The first step to diagnosing EM is seeing your primary care doctor, who can test for some of the common causes of EM or its symptoms, and refer you to a specialist to confirm a suspected diagnosis. There is not a specific type of doctor that always diagnoses and treats EM. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment. These may include dermatologists, neurologists, vascular specialists, hematologists, rheumatologists, or other types of physicians. The type of specialist that is appropriate after diagnosis may depend on the underlying cause when secondary erythromelalgia is present.

The Erythromelalgia Association (TEA) has a Patient Guide which includes helpful information about diagnosing EM. This guide can be used as an educational and awareness tool for patients, family and friends, and health care providers. They also have a Doctor Directory with contact information for doctors and researchers who have been suggested by TEA members over time. Please note that neither GARD nor TEA recommends or endorses any doctors or researchers and that contact information may have changed since it was originally provided.

Last updated on 05-01-20

How might erythromelalgia be treated?

No single therapy works well for every person with erythromelalgia (EM). Often it is necessary to try different treatments or combinations of treatments until the best therapy is found. In some cases EM may go away on its own. For both primary and secondary EM, avoiding triggers of symptoms is helpful in preventing flares. Treating secondary EM involves treating the underlying disease, which can be helpful in controlling symptoms in some people. However, results are inconsistent.

Treatments for EM that have been used with varying results include creams applied to the skin (topical creams), various oral medications, infusions of certain medications or anesthetics, supplements, and mind-body therapies (such as cognitive behavioral therapy). More invasive approaches to treatment when other therapies have failed have included epidural anesthesia, nerve blocks, and surgical procedures.

The resources below provide more detailed information about the many treatment options for EM, including evidence supporting the effectiveness of the treatments (which in most cases is very limited).

Last updated on 05-01-20

Name: The Erythromelalgia Association TEA 200 Old Castle Lane
Wallingford, PA, 19086, United States
Phone: +1-610-566-0797 (messages only) Email: https://erythromelalgia.org/contact/ Url: https://erythromelalgia.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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