There is no specific diagnostic test for most cases of erythromelalgia (EM), so making a diagnosis usually relies on the signs and symptoms, a clinical exam and the medical history.
Testing that may be done to support a suspected diagnosis or rule out other conditions 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 - there may be characteristic findings in patients with primary erythromelalgia
SCN9A-related inherited EM can be confirmed with genetic testing by identifying a mutation in 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: 11/28/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please