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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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Tests & Diagnosis

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How is erythromelalgia diagnosed?

Erythromelalgia can be diagnosed through a clinical exam and medical history.[1] Additional tests may include a skin biopsy and thermography to evaluate skin temperature.[2] Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms.[2]

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

  1. How is EM diagnosed?. The Erythromelalgia Association Web site. 2012; Accessed 5/30/2012.
  2. Maakaron JE, Taher A. Erythromelalgia. Medscape Reference. February 10, 2012; Accessed 5/30/2012.


  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.