Erythromelalgia (EM) is a condition characterised by redness of the skin, feeling of warmth, and burning pain sensations in the feet and sometimes in the hands (extremities).^1-3 There may also be itching and swelling in the affected areas.¹ EM typically affects both sides of the body (bilateral) but may be observed in just one side (unilateral).^1,2 The symptoms may come and go (intermittent), with the onset of symptoms described as a flare or episode.¹ The flares often occur later in the day and at night.^1,2 EM symptoms can vary from mild to severe, with some individuals experiencing on-going (chronic) pain.

Primary EM is when the condition occurs spontaneously without any known cause (idiopathic), or may have a genetic component (inherited), whilst secondary EM have been associated with other underlying medical conditions.^1-3

Synonyms: erythermalgia; Gerhardt Disease; Mitchell Disease; Weir-Mitchell disease²

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:90026 Primary erythromelalgia

ORPHA:529864 Secondary erythromelalgia

ICD-11: EG00 Vasodilatation of extremities

Symptoms of EM include burning pain sensations in the feet and/or hands (extremities), accompanied by redness and increased temperature of the skin in the affected areas.^1-3 These areas may also feel itchy, swollen, sore and sensitive to touch.¹ Symptoms can vary from mild to severe and may come and go (intermittent). The flare of symptoms may be triggered by heat, alcohol and spicy food.^3,4

The pain may become on-going (chronic) and affect daily activities.¹ There may also be other complications such as skin ulcers, infection and tissue death (necrosis).

Please speak to your medical team to learn more about the symptoms and complications of EM.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

The main cause of EM is not well-understood.^1,2

Primary EM may occur spontaneously without a known cause (idiopathic) or may have a genetic component (inherited).^3-5 Disease-causing genetic variants (changes) in the SCN9a gene have been reported in some cases of EM.⁵ These genetic changes can be inherited in an autosomal dominant manner. More information on autosomal dominant inheritance can be found at Centre for Genetics Education: Factsheet on Autosomal dominant inheritance.

Secondary EM is associated with other medical conditions, such as but not limited to, blood (haematological), metabolic, connective tissue and neurological disorders, cancers, autoimmune conditions, infections as well as side effects of certain medications.^3,6

Please speak to your medical team to learn more about the different causes of EM.

If you would like to learn more about the inheritance and impact of primary EM that has a genetic component, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found at:

• Information on Genetic Services
• National and State Services page underneath the ‘Genetic Counselling’ sections listed

Erythromelalgia (EM) is typically diagnosed based on clinical examination of the symptoms.¹ As the symptoms may come and go (intermittent), it is recommended that photographs of the affected areas are taken when symptoms are present (during flare ups or episodes) and brought along to the clinical examination.^1,2

A detailed medical and family history may be taken, and other tests may also be done to determine if it is primary or secondary EM, and to determine if there are other underlying medical conditions.^1,2

Please speak to your medical team to learn more about the available diagnostic pathways for EM.

There is currently no curative treatment for EM but there are strategies to manage the symptoms and reduce flare ups, which may include:^{1-2, 4}

• applying a gel pack to the affected area; avoid using ice packs which can worsen symptoms
• immersing the affected area in cool water but not for prolonged periods as that can lead to skin injury and complications
• keeping cool and wearing loose clothing
• raise (elevate) the affected area and avoid a ‘hanging down’ position
• avoid heat, exercise, alcohol and spicy food, which can worsen the symptoms
• creams and medications
• other pain management strategies

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of EM may include general practitioners (GP), geneticists, neurologists, dermatologists, rheumatologists and vascular surgeon.^1,3 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for erythromelalgia (EM) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with EM at emergency departments/services:

• It is recommended to avoid use of ice packs on affected areas as it can cause the symptoms to worsen.¹

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

International Organisation:

The Erythromelalgia Association (United States of America)
Website: https://burningfeet.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

EM varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on EM can be found at:

• healthdirect: Erythromelalgia
• National Organization for Rare Disorders (NORD): Erythromelalgia
• Genetic and Rare Diseases (GARD) Information Center: Primary Erythromelalgia

• The Australasian College of Dermatologists: Erythromelalgia

Resources for primary erythromelalgia:

• GeneReviews®: SCN9A Neuropathic Pain Syndromes
• Online Mendelian Inheritance in Man, OMIM^®: #133020 Erythermalgia, primary
• Orphanet: Primary erythromelalgia
• Human Phenotype Ontology (HPO): Erythermalgia, primary

Resources for secondary erythromelalgia:

• Orphanet: Secondary erythromelalgia

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.