Erythromelalgia (aka erythermalgia) is an old name for a mix of symptoms that most often affect the feet and hands. Less often symptoms start in other places, particularly on the face, or spread there. The classic symptoms are unexplained redness, pain, and swelling, worsened by warmth. Many patients cool their skin for relief. The first full medical description was by Mitchell, a Civil War surgeon. He gave the name “erythromelalgia”, which means red swollen limbs in Greek.1 Some patients notice white or blue skin at times.
More than half of patients with erythromelalgia have objective evidence that it is caused by small-fiber polyneuropathy (SFPN). The body’s nerves become damaged and activate to send signals to the brain when they shouldn’t. This triggers pain and changes in blood flow in the skin. These same “small fibers” also control other sensations such as itching, and many inner organs. Some patients notice dizziness, gastrointestinal distress, headaches, and occasional difficulty thinking. Often these are due to the same circulation difficulties that cause the skin redness. I suggest that erythromelalgia patients ask their doctors if they might have SFPN. Recommended tests include a tiny skin biopsy from the leg, or autonomic functions testing (AFT) including sweating.2 Skin punches can be taken in most doctors’ offices and shipped to labs such as Mass. General’s for analysis. AFT are only available at a few university hospital labs including MGH.
New England is a center for research on erythromelalgia and SFPN. Dr. Waxman’s team at Yale focuses on rare but important genetic cause of erythromelalgia and SFPN.3 MGH treats and studies genetic, autoimmune and other causes. Erythromelalgia that starts suddenly in otherwise healthy adults and children with no relatives who have it is sometimes autoimmune, particularly when it starts after infections or possibly vaccinations.4
Best medical treatment depends on knowing the specific cause in each person. If erythromelalgia symptoms are bothersome, pain killers or over the counter remedies may not help, and they don’t help nerves heal. Genetic and autoimmune neuropathies require different treatment and both can improve dramatically with smart medical care.5 Since many doctors don’t know about erythromelalgia and SFPN, we encourage patients to learn and to educate their team. Spread the word that erythromelalgia can be figured out and cured. Here are some sources of more information. Good luck and best wishes.
See February 5, 2018, talk at Radcliffe to the public about small-fiber polyneuropathy, or search the internet for Oaklander and Radcliffe.
See August 18, 2017, Fox25 news story on erythromelalgia.
1. Mitchell SW. On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded. Am J Med Sci. 1878;151:17-36.
2. Mantyh WG, Dyck PJ, Dyck PJ, et al. Epidermal nerve fiber quantification in patients with erythromelalgia. JAMA Dermatol. 2016. Abstract
3. Klein CJ, Wu Y, Kilfoyle DH, et al. Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. Journal of Neurology, Neurosurgery & Psychiatry. 2012. Abstract
4. Paticoff J, Valovska A, Nedeljkovic SS, Oaklander AL. Defining a treatable cause of erythromelalgia: acute adolescent autoimmune small-fiber axonopathy. Anesth Analg. 2007;104(2):438-441. Abstract
5. Liu X, Treister R, Lang M, Oaklander AL. IVIg for apparently autoimmune small-fiber polyneuropathy: First analysis of efficacy and safety. Therapeutic Advances in Neurological Disorders. 2018;11:1-12. Abstract