The EM Warriors: educating, encouraging, empowering lives affected by erythromelalgia
Imagine being burnt alive every day for the rest of your life or being repeatedly branded with a hot iron. Multiply that thought by a hundred and you still won't have come close to the painful reality of living with erythromelalgia – an incurable, excruciating chronic pain syndrome also known as 'Man on Fire' or Mitchell's disease.
What is erythromelalgia?
Erythromelalgia (EM) is a rare condition characterised by intense burning pain, marked erythema (redness), and increased skin temperature.
A distinction can be made between two forms of erythromelalgia, primary and secondary:
1. Primary genetic – also known as familial or inherited.
– Develops from 0-28 years.
– Encompasses approximately 16% of sufferers.
– Can influence family planning due to a 50% probability of heritability.
2. Primary idiopathic or sporadic - due to unknown causes.
– Develops at any age.
– Most common form.
– Must test regularly for comorbidities.
3. Secondary – due to known events.
- Causes include injury, surgery, medication and underlying conditions, e.g. myeloproliferative or autoimmune.
- Occurs mostly in the over 35s.
- Around 40% of sufferers with small fibre neuropathy develop EM.
- Treat the cause: a lupus flare will trigger an EM flare!
Who gets erythromelalgia?
Erythromelalgia is rare; its incidence is estimated to be 1 per 100,000. It is also non-discriminatory, affecting all ages, ethnicities and genders.
What causes erythromelalgia?
The exact mechanism responsible for erythromelalgia is unknown, but several neurologic, hematologic and vascular theories have been proposed.
What can trigger an erythromelalgia flare?
- Heat (the hallmark of erythromelalgia is an intolerance to temperatures over 25 ºC but some cannot tolerate cooler atmospheres of 10 ºC)
- Extreme cold (more rare)
- Others include: stimulants like alcohol, spicy and nightshade foods.
What are the main clinical features erythromelalgia?
- Erythema (skin redness) due to excessive vasodilation and increased blood flow
- Intense burning pain
- Increased skin temperature
- Itching, especially preceding the flare
- Numbness/pins and needles
- Altered ability to sweat
- Allodynia (tenderness to touch)
- Hyperalgesia (increased sensitivity)
- Paresthesia (pricking)
- Livedo (skin mottling)
- Cyanosis (bluish, cold skin), often with blanching when not in flare.
How does an erythromelalgia flare manifest?
A few or all symptoms may manifest as a 'flare', which is triggered primarily by heat and typically relieved by cooling.
- Flares can be continuous or intermittent with burning episodes that can last from hours to weeks at a time.
- Flares can range from mild to severe and disabling.
- Flares may attack gradually and incrementally or be full-blown and incapacitating from onset.
- Flares tend to be bilateral and symmetric but unilateral flares may occur in secondary EM. Unilateral flares can confound diagnosis.
- Flares typically begin mid-afternoon (4 pm), and progress until early morning (3 am).
- Out-of-flare skin can look normal unless there is pernio, livedo, etc.
Which parts of the body are affected by erythromelalgia?
Erythromelalgia may be localised to one or two areas – primarily the feet and hands – or widespread, affecting multiple areas like the face, mouth, ears, limbs, torso, scalp, genitals and even internal organs.
What is the diagnostic process for erythromelalgia?
Without a confirmatory diagnostic test, this process is incredibly difficult and tends to be based on:
- Clinical presentation and patient's medical history.
- Physical examination (in flare).
- A process of exclusion. Many differentials mimic EM, as urticaria/hives, vasculitis and athlete's foot.
- Bloodwork and analyses to identify underlying conditions that may cause secondary EM.
- Genetic testing in those aged under 28 or with a family history of EM.
Our tips to securing that diagnosis:
Clinical indicators (during flare):
- Reduced capillary density (microscopically).
- Reduced capillary perfusion.
- Induce a flare – place a foot or hand in warm water.
- Elevate a flare – raise the legs and note the skin colour reversal.
- Raynaud's ('inverse erythromelalgia'). Make doctors aware that they often co-exist.
- Pernio (chilblains).
- Photos of flares.
- Pain diary.
What treatment is available?
EM is refractory to most medication and intervention and is best managed through:
1. Polypharmacy: oral, topical or intravenous drug combinations.
2. Avoidance of triggers: e.g. warmth, pressure.
3. Strategic cooling: e.g. fans, water and cooling products.
4. Lifestyle changes: e.g. unrestrictive clothing, open footwear.
What is the outcome for erythromelalgia?
Outcomes are variable and depend on the severity and frequency of flares and trial and error treatment protocols using drugs targeting other conditions.
Note that strategies that help one patient may not help another.
No known cure exists (April 2017).
Click here for a list of common complications.
A dynamic UK-based patient network dedicated to empowering, educating and encouraging all those affected by erythromelalgia and its comorbidities. We are self-funded (with charity status pending) to provide an invaluable free 24-hour support and information service worldwide.
An important part of our mission is to empower all those touched by erythromelalgia by facilitating the tools for self-advocacy and by raising awareness of erythromelalgia through our social media campaigns and publications.
Our vision is of a world where there is greater understanding of erythromelalgia and where the hope of a cure becomes reality.
For more information about erythromelalgia, EM Warriors and all our services, please contact The EM Warriors:
Read an EM Warriors member's story - Mary's Story on the Cloudy blog - for an insight into the reality of living with erythromelalgia.