Erythromelalgia (EM)

Diseases of the skin Functional vascular disorders of the skin

Erythromelalgia (EM)

Rare Disease Classifications:

ICD-11: EG00 Vasodilatation of extremities

ORPHA:90026 (Primary erythromelalgia)

ORPHA:529864 (Secondary erythromelalgia)

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

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.

Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References

Emergency Management

There may be special considerations for the emergency management of individuals living with erythromelalgia (EM) presenting to emergency departments.

Avoid use of ice packs on affected areas as it can cause the symptoms to worsen.1

Clinical Care Guidelines

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.

Synonyms

Erythermalgia; Gerhardt Disease; Mitchell Disease

Summary

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

Useful Links for Professionals

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

Personal Stories

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

If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.

Symptoms

Symptoms of erythromelalgia (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.

Cause/Inheritance

The main cause of erythromelalgia (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 Genetic 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 on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

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

Treatment

There is no curative treatment for erythromelalgia (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

It is best to speak with your medical team to learn more about possible and suitable management strategies for EM.

Clinical Care

Healthcare professionals involved in the treatment of erythromelalgia (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.

Research and Data

Please visit Australian Clinical Trials to learn about clinical trials for erythromelalgia (EM)  in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for EM in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

There are currently no known organisations for erythromelalgia (EM) in Australia that is registered and regulated by the Australian Charities and Not-for-profits Commission (ACNC). If you are aware of any registered EM organisations in Australia, please let us know via the Contribute page.

Facebook Support Group

Erythromelalgia- Australian & NZ Support Group
URL: https://www.facebook.com/groups/603564577154397/

Erythromelalgia- Australian & NZ Support Group is a Facebook group that provides support and discussion of local impacts for individuals with a medical diagnosis of EM. It is not an ACNC-regulated organisation or linked to any registered organisation.

International Organisations

The Erythromelalgia Association
Website: https://burningfeet.org/
Contact form: https://burningfeet.org/contact/

The Erythromelalgia Association (TEA) is an international, all volunteer, nonprofit organization that provides educational and networking services online and offline, raises awareness of erythromelalgia, and helps fund research into this rare disorder.

 

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

Support Services/Resources

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.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on erythromelalgia (EM) can be found at:

References
  1. Erythromelalgia. Accessed on 16 July 2024. https://www.healthdirect.gov.au/erythromelalgia
  2. National Organization for Rare Disorders (NORD). Erythromelalgia. Accessed 16 July 2024. https://rarediseases.org/rare-diseases/erythromelalgia
  3. Genetic and Rare Diseases (GARD) Information Center. Primary Erythromelalgia. Accessed 16 July 2024. https://rarediseases.info.nih.gov/diseases/6377/primary-erythromelalgia
  4. Hisama FM, Dib-Hajj SD, Waxman SG. SCN9A neuropathic pain syndromes. 2006. Updated 23 January 2020. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–. Accessed 16 July 2024. https://www.ncbi.nlm.nih.gov/books/NBK1163
  5. Primary erythromelalgia. Accessed 16 July 2024. https://www.orpha.net/en/disease/detail/90026
  6. Secondary erythromelalgia. Accessed 16 July 2024. https://www.orpha.net/en/disease/detail/529864
Page Last Updated

16/07/2024 15:45