Rare Disease Day – My Erythromelalgia Story

Banner which reads 'I support rare disease day, 28th Feb 2023' next to a photo of pippa using her powerchair outdoors and smiling brightly.

If you’re new here, hello! My name is Pippa and I’m a disabled writer, speaker, and influencer attempting to live my best life alongside chronic illness. Since we’re coming up to Rare Disease Day, I thought I’d take the opportunity to tell you about my own rare diagnosis… a condition that’s been with me for a fairly long time now, but that we finally found a name for last year. And that name is erythromelalgia.

Even typing this blog post now, I still can’t always spell it right on first attempt, and I usually have to listen to somebody say it first before I pronounce it correctly. But erythromelalgia (eree-thro-mel-al-ja) is a rare neurovascular condition that causes episodes of burning pain and redness in particular parts of the body – most commonly the feet, hands, arms, legs, ears, and face.

Prevalence rates for erythromelalgia are currently thought to be around 1.3 in 100,000. There are no case rates specific to the UK, but it’s widely accepted that the condition is more prevalent in females than males. The more I’ve learned, the more I suspect there are other cases like mine out there that, as of yet, are undiagnosed. But let’s park that thought for now…

Before I tell you more about the condition itself, let me walk you through my story. It’s one that began many years ago, and one that I never thought I’d fully puzzle out. After all, how do you end up diagnosed with a condition that neither you nor your GP has heard of?

My Background

For context, here are some things you should know about my health background. I live with an Energy Limiting Condition called ME/CFS – a chronic illness that affects multiple different systems in the body thanks to autonomic dysfunction. I’m an ambulatory wheelchair user, which means I use mobility aids on some days, but not every day. I’m also quite an allergic human being – I have anaphylaxis, oral allergy syndrome, and a handful of food intolerances thrown in for good measure too. There are a few other bits and pieces that make up my health equation, but those are the things I think are most relevant here.

As erythromelalgia is a diagnosis of exclusion, I should say for the record that as far as I know, I *don’t* have rheumatoid arthritis, lupus, or any blood disorders. I’ve suspected for a long time that my mast cells don’t quite behave as they should, but not in a way that’s severe enough for an MCAS diagnosis. I’m open to the idea that I may have other weird and wonderful stuff going on, but I’m confident that my diagnosis of erythromelalgia is the right one. So, here’s how it all went down…

The Onset

Almost a decade ago, when my chronic illness was at its worst, I noticed that particular areas of my body would ‘flare up’ under certain conditions – the areas around where the joints were on my hands and feet would go bright red and feel swollen and painful. Back then, I assumed this was just a classic case of autonomic dysfunction – I already experienced bad blood pooling in my legs and feet whenever I stood up too fast. However, it never occurred to me that I should probably see a doctor until an episode where I stood up out of the bath too fast and blacked out, ending up on the floor with what felt like all the blood in my body rushing to my calves and feet and causing them to burn and pulse painfully. Such a rock and roll lifestyle, I know.

Pippa laid out on soft seating in a cafe window, legs elevated and her head resting on her hands.

From then on, I’d notice that my calves, ankles, and feet would behave quite strangely under certain circumstances. Sometimes it’d just be whenever I stood up too fast, but often it would happen when the temperature of my external environment rapidly changed, whether that was becoming hotter or colder. It was most likely to happen in the morning or the evening, and sometimes my own actions would lead to it – drinking a hot drink or getting out of a warm bath on a cool day definitely made it more likely to happen.

I don’t believe this is related to erythromelalgia, but sometimes when this happened, it almost felt like I was having an allergic reaction – I’d feel shortness of breath, like I couldn’t quite get enough oxygen into my body. That first time I blacked out when getting out of the bath, even before I felt any symptoms, I had that same feeling of physiological dread that’s a hallmark signifier of anaphylaxis. And mostly because I thought these weird flushing instances felt like something allergy-related, I booked an appointment with my GP. That first appointment was many years ago, back when I was a student – 2015 or 2016, I believe.

I’m very lucky to have a brilliant GP and a really good relationship with her. She’s always attentive to my own ideas about what might be happening, and knows that I know my body well – if I have concerns that my symptoms might be a sign of something bigger, she’s happy to investigate it. The first thing we confidently agreed on was that Raynaud’s Phenomenon (a common issue) was affecting my feet. However, having ruled out many other things over the course of a couple of years that might explain the rest of the symptoms, the most reasonable label we could find was urticaria – some kind of reaction to changing temperatures. Either way, there wasn’t a lot I could do about it. I made some lifestyle changes that I probably should have made earlier (and gave up my favourite past-time of drinking tea while relaxing in the bath) and carried on with my life.

These symptoms in my legs and feet never went away, and I always looked upon them with a kind of humour. They only altered my day for a short time and then went away again, so it just seemed like yet another strange way my body had to behave to get me through the day. It was almost always my feet that flared up – the whole of each foot, ankle, and midway up my calves would grow red and seem to expand in size, and the area around the joints would feel like it was swollen.

Pain would radiate through them – not excruciating pain by any means, nothing worse than what I already deal with through my chronic illness, but sometimes it would almost feel like parts of the area were pulsing, like they had a heartbeat. I would lay down on my bed and elevate my feet, trying to keep them cool, and wait for them to settle down so I could carry on. That was the situation for around five years.

The Turning Point

Just before the UK lockdowns began, strange things started happening with my hands. The situation with my legs and feet had stayed the same for a good few years at this point, but up to then I had never taken much notice of the increasing redness and pain on the back of my hands, wrists, and lower arms. Now, it was impossible to ignore it. The condition of my hands was definitely affected by my internal and external temperature, but most of the time, any little thing could trigger it. It began to happen any time I raised my arms to do my eyebrows (priorities, right?), or sometimes when I’d been holding a pen or holding up my book while reading in bed.

Pippa's hand as she's laid in bed reading. From the knuckles down to the top of the wrist, the skin is bright red and books sore, with two especially deep lines around the wrist joint.

There usually wouldn’t be much warning – one second I’d be fine, and the next thing I knew my hands and wrists would feel like they were burning and swelling up. Sometimes they felt a little stiff to move, especially during the worst flares where my skin would become dry and cracked, but otherwise it didn’t restrict my mobility too much – I could still physically move my hands and fingers, it was just a lot more uncomfortable to do so.

It was around this time that I also began to notice the discolouration in my skin, even when my symptoms weren’t flaring. Specific patches of my skin, usually around my knuckles and the top of my wrist, would often be flushed a red or purply colour. At first I assumed I was just being a little paranoid, but when I started to notice it in photos and my loved ones picked up on it too, I realised that this was actually A Thing.

Again, it was a while before it occurred to me that I should probably see my doctor about it. My chronic illness limits me physically in so many ways, and I knew I couldn’t have anything messing with my hands. I’ve had to fight hard to have a career that works alongside my health condition, and I mainly earn my living through writing – I couldn’t run the risk of losing the ability to jot and type too. By this point, I was having at least a couple of flare-ups per week, usually in the evening but prone to happen at other random points in the day too. At that time, my main worry was that it could be rheumatoid arthritis – something there is a history of in my family, and that many of my existing symptoms overlap with. However, routine tests eliminated many of the possible diagnoses that my GP suspected, including RA.

By this point, I’d realised that it was only ever me who saw the flare-ups. Wherever possible, I started noting down when my symptoms flared up and what I was doing at the time, and also taking photos of my hands and feet whenever I felt it happening. Even to this day, I don’t think I have photos that fully capture what it looks and feels like, but the ones I did snap still turned out to be really helpful in moving things forward. I’ve included a few pics of my hands in this blog post, but you’ll have to take my word for it with my legs and feet. I’ve learned the hard way what can happen when you put feet photos on the internet, and trust me, it ain’t pretty.

As I said, I have a great relationship with my GP, so I couldn’t not laugh when her genuinely interested and excited reaction to seeing the photos was ‘Wow that’s SO WEIRD!!!’ and immediately apologising for saying that out loud.  She wasn’t wrong. It was seriously weird. And this is where it gets interesting: my GP didn’t know what exactly was happening to my hands and wrists either. Instead, she reached out to a contact of hers who was a dermatologist, to ask for their opinion, and told me she’d be in touch when she heard back.

Finding Answers

Pippa in Parliament, in her wheelchair and wearing a blue dress, holding up the Rethinking ME report.

I think it must have been around 4-6 weeks before anything else happened. I could see online that another round of blood tests had come back clear, and I *think* I had a message from my surgery asking me to book an appointment. In the end, I had to do a phone appointment from the station because I ended up having to get a train to Parliament that day (Life Of Pippa at its finest), but I remember the conversation well. My GP was reading the dermatologist’s reply for herself as we spoke over the phone, so we learned at the same time that their opinion was that if it wasn’t rheumatoid arthritis, it could be something called erythromelalgia. And since I was at the train station, she Googled it for me and read out the info to see what my opinion was.

I remember her saying that it was a rare condition, and reading out a list of symptoms that immediately resonated. I think she told me to look into it myself (she texted me the name), and to book another appointment to discuss. But what I definitely remember is Googling the name while waiting for my train, seeing the pictures on medical websites, and recognising those visible symptoms instantly.

At the time, I was already waiting on an NHS referral to a dermatologist for a separate issue. Where I live, there also happens to be a 12-month waiting list for dermatology appointments. So, I made a judgement call – I saved up and paid for a private appointment. It cost £200 plus a taxi each way (ouch), but meant that I was only waiting for around 4 weeks. Plus I reckon I got my money’s worth just from the laugh I had to suppress when I walked in and the receptionist was wearing a waistcoat. What a time.

My appointment was with a general dermatologist with knowledge of a range of conditions, rather than somebody who specialises in conditions like this one, but it was in this appointment that my diagnosis was confirmed. I didn’t want or have access to specialist testing, so again, it was a diagnosis of exclusion that the dermatologist was confident was the right one. And there we have it – I have erythromelalgia. So, let’s delve into what that actually means and where we go from here.

What Is Erythromelalgia?

Erythromelalgia (eree-thro-mel-al-ja) is a rare neurovascular condition that causes episodes of burning pain and redness in particular parts of the body – most commonly the feet, hands, arms, legs, ears, and face. It’s thought to be a result of your blood vessels dilating and constricting in abnormal ways, which affects blood flow in these areas. In most cases it’s episodic, which means symptoms result from flare-ups rather than being there all the time. However, it’s noted that discolouration may be present in the affected areas even when there is no flare-up happening.

There are two types of erythromelalgia: primary and secondary. Secondary erythromelalgia happens as a result of other underlying medical conditions, such as diabetes, lupus, bone marrow disorders, and more. As we ruled many of these things out, I’m left with primary erythromelalgia – this is thought to be caused by a change in your pain nerves due to a change in one of your genes (either through inherited DNA or sporadic mutation), and this tends to occur most often in people of a younger age. I reckon it’s the trendy one, if I do say so myself.

My Signs & Symptoms

My key symptoms were as follows:

  • Heat. Feeling my hands and feet become hotter is usually the first thing I notice during a flare. To me, it feels like these areas are burning. You know when you’re making a cuppa and you accidentally splash yourself with a bit of boiling water? That’s similar to what the burning feels like all over. My hands and feet are also very hot to the touch during a flare – something that’s wild to me and my loved ones, given that my autonomic dysfunction means they’re usually freezing cold even in the height of summer. You either get one extreme or the other with me, it seems. My body has zero chill.
  • Pain & Swelling. According to my research, many people with erythromelalgia experience ‘tingling’ pain during a flare, but this has never been the case for me. My pain feels more like a deep kind of throbbing, and the more the affected areas become swollen, the more deeply I can feel it. I find it to be particularly bad in my knuckles and wrists where the joints are, but the sensation affects the whole area. Sometimes, the changes in my skin during a flare leave me with rougher, drier hands or open wounds, and on two occasions, I *think* I’ve been left with blisters on the worst affected areas of my hands – but I’ve never found any info or shared experiences about this online, so I could be wrong. I’ve also learned that many people with the condition experience severe pain that’s utterly debilitating, which makes me grateful that although mine is incredibly uncomfortable, it seems to be at a more manageable level – usually no worse than what I already deal with through my chronic illness.
  • Discolouration. Over time, the discolouration in my hands has become more noticeable – all the time, not just when I’m in a flare. Patches of my skin are usually a red/purple colour, especially around the wrist bone, and these days it can be quite noticeable even on photos and to other people. Truthfully, this is one of the things I feel most insecure about at the moment. It’s a blummin’ nightmare trying to find a nail polish colour that doesn’t clash with it…

My Triggers

When my GP was reading out potential triggers for erythromelalgia to me over the phone, I genuinely thought I was being trolled. Caffeine, a warm home, and wearing fluffy socks. It was like somebody had made a list of the few remaining joys left in my life with chronic illness and blessed me with a condition that eliminated the last of them.

That may be a tad melodramatic, but you know what I mean. As a person I’m freezing cold all the time, so it’s been hard to hear that so many of the measures I take to keep myself warm and better manage my ME/CFS symptoms might be aggravating my erythromelalgia symptoms. At the moment, I’m still trying to find the balance between the two – I’ll report back on that one.

Pippa's hand as she's laid in bed reading. From the knuckles down to the top of the wrist, the skin is bright red and books sore, with two especially deep lines around the wrist joint.

Other triggers include exercising, alcohol, spicy food, being dehydrated (another thing I’m already contending with), wearing tight clothing, and more. And besides my favourite things listed above, the main trigger for me is one I’m reluctant to admit – stress. Pre-2021 I’ve been lucky enough to only experience stress in manageable amounts, the same as the majority of people, but life has also felt like it’s trolling me for the past couple of years. There has unfortunately been a lot of trauma, loss, and grief over that time, and even when I have the best handle on things I could possibly have, it’s definitely made my flare-ups happen more often and more intensely.

Treatment Options

So since there’s only so much I can do about the flare-ups, what can be done to treat them? The answer is, not a lot. In my case, it seems there’s no underlying condition to tackle. There is no cure or targeted treatment for primary erythromelalgia – like ME/CFS, condition management and prevention of rough spells is about as much as you can do.

One thing I have been prescribed (or attempted to be prescribed) for erythromelalgia is capsaicin, a topical cream that alters the way pain signals from nerve endings in your body are transmitted to your brain. Rather than apply this cream during a flare, the idea is to apply it daily in an attempt to build up your body’s resistance over time. I’m open to the idea of giving this a go (although the thought of inflicting similar pain on myself even outside of a flare makes me feel a bit ill), but with rare conditions come rare prescriptions. For the last six months, I haven’t been able to get hold of capsaicin as a presciption in the UK – it’s completely out of stock. I’ll keep you posted on that one too.

Medication is also recommended in certain cases. Bizarrely, I’m already taking one of the recommended medications, for other pain-related symptoms of my chronic illness. I’ve had this prescription for many years and it suits me much better than others I’ve tried in the past, which makes me wonder if my erythromelalgia symptoms are already being well controlled by this and could be worse if I wasn’t taking this medication. But I’m quite alright with not finding that out, thanks very much.

For people more severely affected, topical anaesthetics may be prescribed to ease distress during a flare. Some people also receive lidocaine infusions as a way of managing things over the longer-term.

Mirror selfie of Pippa with the phone covering her face, holding up her other hand. Both hands look red and inflamed right down to the wrist, with deep sore spots around the knuckles.

During early flare-ups, my instinct was to apply hand cream or lotion to the affected areas, to try and calm them down. I can confirm this is not the way to go. Even the most gentle, allergen-friendly products I’ve used in this way only seem to make it angrier. It can also be really tempting to stick your hands or feet (or other affected areas) into ice to try and remove the feeling of burning. You know when you get really bad sunburn on holiday and you feel like you can’t focus on anything until you have something on there to soothe it? It’s kind of like that. However, submerging the areas in freezing cold temperatures like this can also be damaging to the skin and the advice is to avoid this completely. Knowing me, the dramatic change in temperature would probably invoke some kind of adverse reaction in the rest of my body too.

I’m still fairly new to this world, so I’ll be looking into some of the recommended non-medical therapies too. These include taking magnesium supplements and managing activity levels, and carefully using cool packs on the affected areas during a flare. Again, I’ll try and keep you posted on anything I find helpful – I’d also gladly welcome any recommendations specifically for cool packs or similar items.

What Next?

That last paragraph kind of reflects where I am right now in this erythromelalgia journey. From my research, I can tell I’m nowhere near as severely affected as I could be, and my heart goes out to anybody dealing with this at a level that’s unbearable. For me, where I’m at now is manageable. My main concern is that it doesn’t spread further or become any worse, and the dermatologist has assured me that this is unlikely to happen – I already have it in almost all the areas that are most commonly affected. Lucky me, I suppose?

I would find it so interesting to delve deeper into the cause of my erythromelalgia, or go down the genetic testing route – especially since I suspect mine is an idiopathic case of sporadic mutation rather than something I’ve inherited. However, I don’t think this is feasible or necessary at this time. As long as my condition remains manageable and I don’t experience a further loss of function in my hands, I’m fairly okay with this. It’s just another thing to add to my colourful life with long-term illness, and like everything else, I’ll adjust my ways and attempt to find the humour in it. Sometimes that’s all you can do, right?

 ~

So, I think it’s clear from this whole post that I’m no expert on erythromelalgia. This is all still fairly new to me, and I’m still figuring out most stuff for myself, but I’m glad to have a name for it now. I felt compelled to share my story online at this stage because from my own research, it’s clear that there’s a lack of patient voices out there. That’s unsurprising, given it’s a rare condition, but at this time I couldn’t find anybody else I could relate to – and that’s half the battle.

The severity of my condition seems nowhere near as severe as the other cases documented online, and their voices should be prioritised. However, if one day there happens to be another person in the UK who’s significantly affected but still bumbling about life in their usual way, I hope they know they’re not alone. Nobody asks to be a medical mystery, but when you think about it, I reckon that belonging to a club that’s so exclusive is a pretty cool thing. So for now, cheers to that!

~

You can find more about erythromelalgia on the NHS website, and also on the dedicated National Organisation for Rare Diseases (NORD) page. If you’re severely affected and seeking peer support, you may be interested in the work of The Erythromelalgia Association too.

Where To Next?

8 Responses

  1. Thanks for sharing, Pippa, that’s fascinating – really hope you can keep managing it well, and that the prescription finally becomes available.
    Temperature regulation is one of those mysteries to me. My feet often overheat, especially at night. The only comment I got from the GP was “hormones” but I’m sure it’s related to my ME. My face flushes easily too, since an allergic relation, and my comfortable temperature is way lower than most people’s, let alone those with ME! Keeping hydrated is an ongoing challenge.

  2. Hi Pippa, thank you for sharing and sorry to hear you have been going through this. I know too well how horrible it is. I seem to have got the worst end of the stick of Erythromelalgia and mine is all over my body. Didn’t think I’d hear of someone else in the UK with it. Mine Started off in the hands and feet and gradually spread to the rest of my body over time. I’ve had it for over 2 years now and after going through about 15 GPS, dermatologists, neurologists and pain doctors and doing almost every test under the sun, I finally found a doctor an NHS doctor who had seen the condition before. Luckily, he recommended me to a pain doctor for a simple treatment which manages the condition for 3 months at a time in my case (might be different for others) and can be given through the NHS. I’m being careful not to say the treatment on here as I don’t want to publically appear to be giving medical advice or recommendations to anyone. Happy to discuss more with you or anyone else as I know what it’s like to feel hopeless. Took me almost 2 years to make some progress but thankful to be able to have some sort of solution albeit 3 months at a time.

  3. Excellent post, Pippa – I’m so very sorry to hear you have EM, too. Like you, I have ME/CFS (21 years now!) and about 10 years ago, I got EM.

    Fortunately, a few years into it, I learned how to put it into remission! And it worked – my EM has been in remission for many years now, with only mild, tiny flare-ups during the winter that are easily dealt with.

    Many people (myself included) have successfully put EM into remission using heat desensitization (a process that also works for Raynaud’s). It sounds counter-intuitive but you soak your feet in hot water, gradually getting increasing temp (start at body temp and slowly increase but never above 120 F which can scald skin). This sort of retrains the nervous system to react normally to heat. More info on my own experiences here plus a link to an EM group on FB where you can search for desensitization and find hundreds of success stories (though I don’t recommend the 2 books I mention in the post – both were a waste of money and so badly written they are painful to read! lol) Good luck – let me know if you have questions:
    https://livewithcfs.blogspot.com/2017/12/heat-desensitization-erythromelalgia-in.html

    Sue

  4. Hey Pippa,
    Thank you for shining a light on this… particularly as I want to say “snap!” – mine was diagnosed as “hormonal/menopause related” but never having been able to conjure it up in a doctors office I can’t get them to actually see it. I liken it to sun burn. My other half can hold his hand at least half a foot from my ears and still feel the heat coming from them and when my hands start, all the veins from just above my wrist stand out like a tube map. I’m going to start taking pictures so that I can go in one day and say “look…!”

  5. Hi Pippa! Thank you for sharing your story and articulating some of the peculiarities that accompany EM so well. I’ve lived with EM since I was in my early 20s, affecting my hands and arms, but now it has begun to affect my feet, sadly. I found the only thing that worked to keep it vaguely in check was environmental control. Fans are my saving grace… if I’m anywhere where the air is still, you can see the weird discolouration over my whole arms and it will kick off a flare… it looks horribly bizarre. I very much feel you on the self-consciousness part. Moving air seems to help with the general allodynia too… it feels like still air burns my skin almost.

    There is definitely a lack of patient voices, and so little knowledge about it, or reasonable treatments. Finding your blog was heartening, and I wish you all the best going forward!

  6. I was misdiagnosed for over 20 years with Raynaud’s. I always told people I have Raynaud’s but the opposite – I get hot, and finally this year I was properly told I have erythromelalgia. Symptoms started for me at 10 years ago, and now I am 33. For me, it has gotten more severe as I have gotten older. It used to just affect my hands and feet and face, but now it is my upper arm, forearms, and knees. It is so nice to feel seen since we are a part of this rare disease club. Hopefully EM gets talked about more so kids with EM don’t feel ostracized like I was.

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