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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Mitchell disease (formerly)
  • Primary erythermalgia
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Your Question

I suspect that I have erythromelalgia. What kind of doctor diagnoses this disorder? Could you explain the difference between primary and secondary EM? Is it known what causes the genetic mutation that leads to this condition? Is EM caused only by the mutation of this particular gene or do they suspect other causes as well?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is erythromelalgia?

Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.[1][2]
Last updated: 12/11/2013

How is erythromelalgia diagnosed?

Erythromelalgia can be diagnosed through a clinical exam and medical history.[3] Additional tests may include a skin biopsy and thermography to evaluate skin temperature.[4] Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms.[4]

There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.
Last updated: 12/11/2013

What is the difference between primary and secondary erythromelalgia?

Primary erythromelalgia develops on its own without any associated underlying conditions. This form may occur randomly for unknown reasons (sometimes termed 'idiopathic erythromelalgia'), or it may be familial. Late-onset erythromelalgia is primary in about 60% of cases.[1][5]

Secondary erythromelalgia develops secondarily to various underlying conditions. These may include neurologic disorders such as multiple sclerosis and peripheral neuropathy; autoimmune disorders such as lupus; and most commonly, bone marrow disorders characterized by abnormally increased production of certain blood cells (myeloproliferative disorders). Erythromelalgia occurs before symptoms of myeloproliferative disorders in 85% of cases. There has also been evidence suggesting that erythromelalgia may occur as a side effect of certain drugs (for example, bromocriptine, nifedipine, and nicardipine).[1][5]
Last updated: 12/12/2013

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.[2]

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.[5]
Last updated: 12/12/2013