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Erythromelalgia

What Is It, Causes, Signs, Symptoms, and More

Author:Lily Guo

Editors:Alyssa Haag,Emily Miao, PharmD,Kelsey LaFayette, DNP, RN, FNP-C

Illustrator:Jessica Reynolds, MS

Copyeditor:Stacy M. Johnson, LMSW


What is erythromelalgia?

Erythromelalgia, also known as Gerhardt disease, Mitchell disease, or Weir-Mitchell disease, is a rare disorder characterized by intense burning pain and red-purple discoloration of the extremities, primarily the feet. Studies from the United States, Sweden, and Norway have found incidence rates of less than two per 100,000 people per year. 

A hand and foot with red-purple discoloration.

What causes erythromelalgia?

Erythromelalgia can be sporadic (i.e., arises from a spontaneous mutation) or inherited (i.e., passed down from a parent to their offspring). The more common form of erythromelalgia is sporadic and seen primarily in adults. Sporadic erythromelalgia sometimes results from an underlying condition, such as myeloproliferative disorders (e.g., essential thrombocytosis, chronic myelogenous leukemia, polycythemia vera, myelofibrosis); nerve damage (e.g., peripheral neuropathy); or an autoimmune disease (e.g., multiple sclerosis, systemic lupus erythematosus or rheumatoid arthritis). The cause of sporadic erythromelalgia is idiopathic, as the mechanism is unknown. It is classified as a functional peripheral arterial disease since periodic dilation of the small arteries of the skin causes burning pain and erythema. 

The inherited form of erythromelalgia, which is relatively rare, is caused by mutations in the SCN9A gene, which codes for a voltage-gated sodium channel. Mutations to these channels decrease the threshold for impulses in pain-sensing neurons and increase the sensation of extreme, burning pain. Inherited erythromelalgia typically presents in children and adolescents and is generally passed to an offspring in an autosomal dominant inheritance pattern, with only one mutated allele necessary to cause the disease.

Specific factors that trigger episodes of erythromelalgia include increased body temperature, which may be caused by exercise, warm weather, or wearing socks and shoes. Other triggers include feelings of stress, drinking alcohol, eating spicy foods, and dehydration

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What are the signs and symptoms of erythromelalgia?

The signs and symptoms of erythromelalgia include heat, pain, and redness in the affected skin area. In approximately 90 percent of individuals, erythromelalgia affects the feet (e.g., toes, soles of the feet, dorsum of the feet, or entire foot). Approximately 25 percent of individuals are affected in the fingers, dorsal hands, or whole hands. Symptoms are usually symmetrical but may be unilateral or more prominent on one side of the body. Erythromelalgia is more common in those assigned females at birth and adults. 

The affected skin may look tender and mottled and is typically warm or hot to the touch. The pain that accompanies the heat ranges from mild to severe and can potentially affect walking and one's quality of life. The flares may feel like pins and needles or a slight tingling sensation if the symptoms are mild. When severe, the pain may be intense and burning. Individuals with erythromelalgia usually have intermittent symptoms, lasting from a few minutes to hours. These episodes or flare-ups can start as an itching sensation and gradually progress to more intense pain. Other symptoms of erythromelalgia include swelling of the affected parts of the body, sweating in the affected area, and persistent purple discoloration of the affected area. 

How is erythromelalgia diagnosed?

Erythromelalgia is diagnosed by physical exam and thorough patient history, which allows recognizing characteristic signs and symptoms. The clinician making the diagnosis typically looks for the presence of five key criteria, including pain in the extremities that is burning in nature; the pain is aggravated by heat; the pain is relieved by cooling; the affected skin is erythematous, and the skin increases in temperature when affected.

The clinician may also ask the individual to take photographs of the affected areas during an episode. This can be helpful if the individual is asymptomatic during clinical evaluation. Skin biopsies are not beneficial in the diagnosis of erythromelalgia. However, they can help rule out other suspected conditions (e.g., Raynaud phenomenon, cellulitis). Additionally, there are no serologic tests that can help confirm the diagnosis.

How is erythromelalgia treated?

Erythromelalgia is first treated by preventing flare-ups, such as stopping exercise or decreasing the room temperature. During outbreaks, individuals can cool the affected extremities using fans, cold water, or ice. Additionally, one can also use battery-powered cooling socks or gloves. Clinicians may prescribe topical pain-relieving medications in the form of creams, gels, sprays, or patches. Capsaicin creams or patches have proven to be effective in reducing pain due to decreasing sensitivity of the heat receptors in the skin. A local anesthetic, such as lidocaine, may also be prescribed. Certain oral medications can also be beneficial in treating the pain, including aspirin; anti-epilepsy medicines (e.g., gabapentin, carbamazepine); vasoactive medications (e.g., beta-blockers, calcium antagonists, sodium nitroprusside); low doses of antidepressants (e.g., duloxetine, venlafaxine, amitriptyline or nortriptyline), and systemic glucocorticoids

Individuals with refractory and debilitating pain may benefit from rehabilitation programs that use a multidisciplinary and behavioral therapy approach to assist those with chronic pain achieve a better quality of life. Counseling may help those with extreme fears of precipitating episodes of erythromelalgia and have thus altered their lifestyles negatively in fear of triggering attacks. Provided pain is adequately controlled, patients should be encouraged to engage in their everyday lifestyle as much as possible. There is currently no cure for erythromelalgia. However, interventions can improve quality of life and reduce symptoms. 

What are the most important facts to know about erythromelalgia?

Erythromelalgia is a rare condition characterized by burning, intense pain of the extremities, especially the bilateral feet, accompanied by erythema and increased skin temperature. The cause is primarily idiopathic and sporadic. It is most common in adults assigned females at birth and is diagnosed mainly on clinical presentation. However, mutations in a sodium channel have been linked to the more rare genetic form. Currently, there is no cure for erythromelalgia, and however, during a flare-up, individuals can relieve symptoms by applying cold water or ice to the affected area. Topical and oral medications can also be used to manage the pain, and if the pain is debilitating and severe, therapy and counseling can improve the overall quality of life. 

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Related links

Raynaud phenomenon
Myeloproliferative disorders: Pathology review

Resources for research and reference

Davis, M. D. P. (n.d.). Erythromelalgia. UpToDate. Retrieved May 19, 2022, from https://www.uptodate.com/contents/erythromelalgia?search=erythromelalgia&source=search_result&selectedTitle=1~24&usage_type=default&display_rank=1

 Finley, W.H., Lindsey, J.R. Jr., Fine, J.D., et al. Autosomal dominant erythromelalgia. Am J Med Genet 1992; 42:310.

Information, research, support. The Erythromelalgia Association. (n.d.). Retrieved May 19, 2022, from https://erythromelalgia.org/ 

Thompson, G.H., Hahn, G., Rang, M. Erythromelalgia. Clin Orthop Relat Res. 1979 Oct;(144):249-54. PMID: 535232.

Jackson, A.L., Oates, J.A. A patient with adult erythermalgia: evidence suggesting an autoimmune etiology. Am J Med Sci. 2008;335(4):320-322. doi:10.1097/MAJ.0b013e31812f65e7

Kvernebo, K. Incidence and prevalence. In: Erythromelalgia: A Condition Caused by Microvascular Arteriovenous Shunting, VASA, 1998. Vol 51, p.13

Reed, K.B., Davis, M.D. Incidence of erythromelalgia: a population-based study in Olmsted County, Minnesota. J Eur Acad Dermatol Venereol 2009; 23:13.

Zhang, Z., Schmelz, M, Segerdahl, M, et al. Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. Scand J Pain 2014; 5:217.