Son just diagnosed with EM - is this right?

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Hello - I'm happy to have found this forum. My son is 13 years old and was diagnosed with EM yesterday by a pediatric dermatologist. This is going to be a long post so...forgive me in advance...lol!

About 5 months ago he started having episodes (1-2 a week) of his legs turning red and warm from the knee down. He said it typically happened in the shower and it felt like his legs were swelling and perhaps "prickly." There isn't pain but there is some sensation he has trouble describing. He says sometimes he can feel it happen but it doesn't flare up "all the way" to redness and hotness but he feels that prickle and it gets a bit red. It lasts about 15 minutes. Other times it goes full red and hot. The doctor asked me and/or him to take a pic of it and get back in touch with more information.

Honestly I'd kind of forgotten about it until a few weeks ago we were at the shopping mall and he said "hey mom this is what happens to my legs." He is wearing shorts and I look down and I was stunned - his legs were very red - like a sunburn - and his knees were bright red. I couldn't see his feet as they were in his shoes. I do have some pics and I'll try to attach them. The redness is from the knees down and it was uniformly red - not like a rash but more like a bad sunburn.

So at the appointment yesterday with the pedi dermatologist, she said he has EM and she didn't say much more. She referred me to a website and I was frankly shocked at the difficulty and pain people experience with it. Of course I have to question whether he has this because it truly isn't as severe as the many stories I see here. And of course I have many questions.

He has other medical conditions, notably type 1 diabetes that he's had since he was 2 years old - and it is well controlled. About 18 months ago he developed chest wall pain that was most painful in the center of his chest but spread around to the back. I took him to many specialists and had full work-ups - you name it we probably saw it (heart, neurology, rheum, etc). He is being seen by the pain clinic at Children's for that pain which has never completely left him and is somewhat managed by tramadol. No doctor has been able to give us a reason for the chest pain. There is no redness or skin changes or hotness associated with the chest pain. The pain clinic at Children's thought it could be nerve pain due to his type 1 diabetes (although it has been well controlled as I said) and he was on Lyrica for the first few months but that had zero impact so we stopped it. The neurologist said the pain was not nerve but the muscular/skeletal doctor said it could be nerve but just not well understood. I bring all that up as is there any way the EM diagnosis is related to this?

The doctor yesterday told us the EM was a primary disease and not caused by something else and was not related to the chest wall pain. She said we should come back if the symptoms change as there are medications that have been shown to help. She didn't go into it much really...lol! Again I was just shocked to get home and see how the disease typically is for people.

As long as I can remember I've had episodes (maybe once a week) of one ear or the other (never both at once!) getting bright red and very hot - super hot - just like his legs. I've had this all of my life as I can remember and it really has never changed. It does happen randomly but more likely after a shower or when I'm warm...a few times a month. I honestly don't pay much attention to it. I just mention it because I see some people have EM affect their ears but usually they have other body parts affected with it.

Does what he has sound like EM?

Is it typically progressive? As do most start out mild and get worse?

Is it possible to have EM without it being painful?

Are there any easy tests to confirm the diagnosis? She just said there weren't.

Any thoughts are very welcomed. I'm so puzzled by this right now..lol!

Carol

45-IMG_7447.jpg (1.48 MB)
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I bring all that up as is there any way the EM diagnosis is related to this?

Yes. Diabetes is thought to be the causative illness in some cases of secondary erythromelalgia.

I honestly don't pay much attention to it. I just mention it because I see some people have EM affect their ears but usually they have other body parts affected with it.

Primary erythromelalgia is related to a mutation of the voltage-gated sodium channel α-subunit gene SCN9A. It is hereditary.

Does what he has sound like EM?

Yes.

Is it possible to have EM without it being painful?

Yes. I would describe mine as being uncomfortable, but rarely rising to the level of pain.

Is it typically progressive? As do most start out mild and get worse?

It is often progressive, but not always. Mine has been regressive, starting severe, but now improving. In "Erythromelalgia: new theories and new therapies. Cohen JS. J Am Acad Dermatol 2000", EM is described thusly:

It has now been amply demonstrated that erythromelalgia is a reversible condition in some patients. Once reversed, remissions may last months, years, or indefinitely. These remissions support the statement of Kalgaard, Seem, and Kvernebo that: “In our opinion erythromelalgia is not a separate disease entity but a pathophysiological response of the skin microcirculation.” (p 195)

The hypothesis that erythromelalgia is a vicious cycle caused by a maldistribution of blood flow has gained plausibility via vascular studies and successful therapies that have been replicated.

EM can also be static, maintaining a stable disease course that neither progresses or regresses. However, from what I've read, that is atypical.

And lastly...

Are there any easy tests to confirm the diagnosis?

I believe there is genetic testing for the SCN9A mutation, but i'm not familiar with it. I have never used the GeneDx service, but it does appear they offer testing for the genetic mutation associated with Primary Erythromelalgia. A link is below.

https://www.genedx.com/test-catalog/available-tests/scn9a-gene-sequ...

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One other point, since you're new here. Erythromelalgia is thought to be 2 separate entities. Primary erythromelalgia is an inherited condition, cause by the SCN9A genetic mutation. Secondary erythromelalgia is less understood, but thought to be associated with a number of different causative illnesses.

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I am short of time but just want to say don’t be frightened by what you read about Erythromelalgia. The people who have it very mildly or are even in remission are not on here telling us about it Lol. Some people it is true get very ill but many others never move into the pain level. And even if it gets worse there are medications and on this site you will learn ways to manage it. Erythromelalgia is a syndrome with many different causes and every level of symptoms.
What really interested me was the chest wall pain. In the 6 months before EM hit I was woken up at night every night with just that. I described it as like a painful adrenaline rush but the GP just looked baffled. Once EM began the chest pain disappeared. The trouble with EM is that there are so few doctors who have a clue about it so I don’t expect I will ever know what it was.
Sorry, off to pick up the baby from the childminder. Did you notice there is a group dedicated to parents of children with EM. You might like to join it.
All the best
Nel

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What Nel says is very true. The individuals who have EM and are posting here likely have a more severe disease state. Mine has improved, so it is possible. I felt an impending sense of doom when I was first diagnosed and that has turned out to be unfounded. Recently, I've even been able to start running again, which I couldn't do for many months.

There is always hope.

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Thanks Carter for all the replies and thoughts. We live in the DC suburbs actually. His pediatric endocrinologist is the one who sent us to the pedi dermatologist so she saw the diagnosis and has been trying to help. She said she would like to send him to someone more familiar with EM for a definitive diagnosis and also to discuss treatment options (especially as he is young it is always different when they are young...doctors are usually quite cautious). Do you know of any doctors - doesn't have to be pediatric ones - that are experts in EM anywhere near?

She also authorized the genetic blood test and we're having that done Monday - so that's good I think just in case he has that form of it.

My son also told me that sometimes it is painful in the soles of his feet - he said it leaves an ache sometimes afterwards. I think it's interesting that sometimes it seems so very painful for people who have it and others have no pain.

Has your EM improved due to treatment or just on it's own?

Thanks again!


CarterDK said:

I bring all that up as is there any way the EM diagnosis is related to this?

Yes. Diabetes is thought to be the causative illness in some cases of secondary erythromelalgia.

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Thanks Nel - I will look for the parents group here!

He's had chest wall pain for 17 months now and that has stayed fairly steady although it seems to be better managed with the pain meds and he also takes a stomach med (protonix). He had an endoscopy to see if it could be reflux and he had some stomach irritation but the doc said not enough to cause the amount of chest pain he reports.

Do you - or anyone else here - know of any measures to take to keep it from getting worse or do people without the painful symptoms just hope it stays the same or gets better?


Nel said:

I am short of time but just want to say don't be frightened by what you read about Erythromelalgia. The people who have it very mildly or are even in remission are not on here telling us about it Lol. Some people it is
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selketine, my insurer is Kaiser Permanente, so I have stayed in-network so far. The doctors I've worked with have been mostly unfamiliar with erythromelalgia, though have been willing to order procedures and prescriptions when asked. One of the moderators (mads) sent me a list of doctors in the area that are familiar with EM. Most seem to be affiliated with Johns Hopkins. I'll try to forward that information to you in a private message here.

My EM has improved from treatment. The underlying cause of mine seems to be myeloproliferative. Your son's likely has a different etiology. Some research has postulated that erythromelalgia may not be an independent disease state, but a symptom complex. Kalgaard, 2012 described it as follows:

The clinical picture of EM is heterogeneous regarding age, sex, underlying primary diseases, symptom location, duration of disease and disease severity. In most textbooks EM is considered to be a separate disease entity. Our group has argued that EM represents a symptom complex, a condition rather than a well defined disease (Kvernebo, 2003).

Hypothesis: Microvascular shunting as the final common pathway of pathogenesis.

The hypothesis that symptoms are caused by skin microvascular arteriovenous (AV) shunting with corresponding tissue hypoxia and hyperaemia independent of the aetiology, has been proposed by our group (Kvernebo, 1998). This is analogous to the view that inflammation is not one single disease, but a physiologic response to stimuli such as infection, trauma, or tumor. Further we believe that the microvascular AV shunting may be induced by a number of mechanisms and diseases (Kvernebo, 1998; Mørk, 2004b).

I find this most likely true, as there is often little commonality amongst EM patients. In fact, the severity and symptom locations can be so disparate that one might mistakenly think they're looking at different diseases entirely. It's led me to conclude, like the researchers above, that the microvascular arteriovenous shunting underlying the clinical presentation of EM is most likely induced by different causes. For many, erythromelalgia may be a symptom and not a disease.

Which leads me to my case. I initially self-diagnosed myself. My rheumatologist had diagnosed me with seronegative arthritis, despite the fact my lab results and x-rays consistently came back normal. MRI scans showed nothing specifically diagnostic of rheumatoid arthritis. My erythrocyte sedimentation rate and c-reactive protein levels were very low, indicating no systemic inflammation, and I was also negative for rheumatoid factor and anti-CCP antibodies. My knee joint MRI showed synovitis, an inflammation of the synovial membrane, but the bony erosions found in RA were not present. Given my test results, they probably shouldn't have diagnosed me with auto-immune arthritis. However, my mom has RA and the doctor said that was enough to make the diagnosis, given my progressively worsening symptoms. Almost immediately, I thought the diagnosis was wrong and began searching for another etiological cause. That's when I discovered erythromelalgia.

At that point, I switched doctors. Once a doctor makes a wrong diagnosis, there's no point in staying with that physician. I sought out a new rheumatologist and pitched my theory to her instead. Though she was not familiar with erythromelalgia initially, after researching the condition and reviewing my clinical presentation, she did diagnose me with EM. I told her I thought my hematocrit was too high (the percentage of the blood comprised of red blood cells), so she sent me to a hematologist. The hematologist ordered phlebotomies. I had expressed concern over my hematocrit to both my original rheumatologist and primary care physician to no avail.

My persistence paid off. The phlebotomies have worked. I've had 3 now and each has improved my symptoms a bit more than the last. I'm also taking propranolol (again, my idea) and eating a low sodium diet. The propranolol has helped minimize flaring. I've found eating high sodium foods will quickly induce a flare. Since i've switched to a low sodium diet, it has definitely helped. To insure it is the sodium abstention and not avoidance of a hitherto unknown allergic reaction, I have an appointment with an allergist on Monday.

That's my story. I strongly believe my EM is going to go away entirely. I don't believe I have a disease. I think the EM was a symptom caused by my surging hematocrit. This is probably not applicable to your son's case, but there are a few lessons to be learned:

  • DON'T believe everything you're told simply because the person speaking is in a position of authority. Trust, but verify. Doctors do make mistakes. Vigorously question every conclusion when in doubt.
  • There is no single treatment option in EM that works for everyone. When I first raised the possibility of erythromelalgia with my original rheumatologist, he prescribed gabapentin (neurotin). I didn't fill the prescription because I thought it was unlikely to work in my case.
  • Don't discount the possibility that EM is a symptom and not an independent disease state.

I hope some of what I said has been helpful. Good luck to you and your son.

1 Like
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I am not an expert selketine and am only talking from what I have learned on sites like this. I don’t feel that there is anything to do to stop progression if that is what it is going to do but there is absolutely no reason to presume that it will get worse. I should also mention that in my experience EM doesn’t stay the same from year to year. It can move around and one year hands will be worse and the next year ears. We can’t stop it but there are definitely medications which help. If your son is not having pain with the reddening that may remain the case.
To return to the chest pain it doesn’t sound like what I had; could it be anxiety? My son had very real pain in his abdomen as a small child when worried about school.
I am so sorry you and your son are going through all this uncertainty.



selketine said:

Thanks Nel - I will look for the parents group here!

He's had chest wall pain for 17 months now and that has stayed fairly steady although it seems to be better managed with the pain meds and he also takes a stomach med (protonix). He had an endoscopy to see if it could be reflux and he had some stomach irritation but the doc said not enough to cause the amount of chest pain he reports.

Do you - or anyone else here - know of any measures to take to keep it from getting worse or do people without the painful symptoms just hope it stays the same or gets better?


Nel said:

I am short of time but just want to say don't be frightened by what you read about Erythromelalgia. The people who have it very mildly or are even in remission are not on here telling us about it Lol. Some people it is
10

Carter,

Wow - I think I will have you come to all of his appointments...haha! We have Kaiser too so we are in the same network and access to the same docs as you. My son was dx'd by one of their doctors who is a pediatric dermatologist. I get the feeling that she went to that diagnosis because his pedi endo had emailed her through the Kaiser system and mentioned it to her. She literally came in with a giant textbook of diseases and said she thought he had this. She said there were meds he could take if it gets more bothersome but she really didn't tell me much about it. She also said that it is NEVER a secondary disease (caused by something else in other words) which I know now is not true. She also said there are no genetic tests at all for it (not true). So perhaps she got the diagnosis right but I don't think she knows much about it.

I agree with what you said as it makes a lot of sense - that something else (basically) can cause EM to happen and sometimes the link isn't clear and sometimes it is. My son has had this chest wall pain problem now for a long time and no one can diagnose it so it makes me wonder if somehow the EM isn't related to that. Of course there is the type 1 diabetes...

I think Kaiser would refer us out of their system (to JHU) if there is a specialist there with more knowledge. They've been very good about referring us down to Children's Hospital for specialists there that they don't have in the Kaiser system so please do send me the list if you have it. I'm very impressed with your story...just awesome how you advocated for yourself and pretty much diagnosed yourself. Believe me - I question doctors all the time so something like this diagnosis I have a lot of questions.

Thanks again!

Carol


CarterDK said:

selketine, my insurer is Kaiser Permanente, so I have stayed in-network so far. The doctors I've worked with have been mostly unfamiliar with erythromelalgia, though have been willing to order procedures and prescriptions when asked...

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Thanks, selketaine! The thing I most like about Kaiser is that the online integration really allows you to take control of your care. That was invaluable to me when my symptoms were wildly escalating. I was communicating with my doctors nearly every day.

I'm impressed that you found a doctor at Kaiser who is familiar with erythromelalgia! I tried and failed in that endeavor. I went to many specialists, though never a dermatologist. Perhaps that was the problem. I saw a neurologist to get my propranolol prescription, purposefully choosing the most experienced (re: oldest) neurologist in the directory for Kaiser Mid-Atlantic. Unfortunately, while he had heard of EM, he didn't know much about it. I spent most of the appointment explaining concepts to him. He was very agreeable, however. When I told him I wanted prescriptions for both the extended release and short acting forms of propranolol, he willingly wrote them.

I imagine Kaiser will send you out if you want to see a specialist outside the network. The reason I have not tried that is because my symptoms have been improving. I do worry about the possibility of a mistaken diagnosis, since I have not been examined by someone experienced with EM. I've looked extensively at Complex Regional Pain Syndrome, but don't think I have that.

The primary medications found to be successful for EM are SNRI's, serotonin–norepinephrine reuptake inhibitors, such as Effexor and Cymbalta, and anti-convulsants, Neurotin and Lyrica.

You said your son had previously taken Lyrica for his chest pain. Was he experiencing EM symptoms in his legs while taking Lyrica?

With regard to the erythema (redness, warmth), does it always go away on its own?

It's interesting your son has it centered in his knee, as I do also. From everything I've read, that is atypical. I've attached a photo of my own flare as a reference. The picture was taken about 2 months ago, prior to my first phlebotomy. My flares are no longer as intense.

50-March13.JPG (1.51 MB)
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We have been very happy with Kaiser overall. Because of his type 1 diabetes he requires a lot of devices (insulin pump, etc) and the coordination among doctors is truly awesome at times. We've also been fortunate to usually find some good doctors. They have also been great about sending us outside of Kaiser for care we can't get from them so I think they would pay to send us to a specialist but you never know.

The chest pain started Dec. 2013 and we've went to several Kaiser doctors and were finally sent to the Pain Clinic at Children's Hospital for management because it was very debilitating for him. He actually missed half the school year and was on "home and hospital" schooling. The person we saw at Children's initially thought it was nerve pain due to his type 1 diabetes but after trying a few treatments - like Lyrica - that did nothing...she decided it wasn't that..but she had no answer.

It seems like the EM started about 6 months ago - so maybe around Nov. 2014. He had been off the Lyrica for several months by that time. Nothing really changed for him as he still has the chest pain and his medications have been the same ones for awhile now.

It seems like the redness and warmth go away on it's own. He says it takes 15 minutes or so? He says sometimes the bottom of his feet will hurt afterwards. He was most red in the knees but it also went down his leg to his feet. It was really quite stunningly red. It seems not to happen often but he says it is more likely when he is walking a lot, and when he is warm, and when he takes a shower. He definitely says that getting that area hot (like from a shower) makes the flare up happen. When it happened at the mall (which is the pic I attached) he was just walking around. It wasn't hot at the mall (to me) but he said he felt warm.

His chest pain is so long term at this point that it seems to me like the two things should be connected in some way, but no one has been able to figure out the cause for the chest pain.

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Nel I don't think the chest pain is anxiety. I have certainly considered that possibility, as have his doctors, but he is happy and well adjusted with school and all. He has even had to stop activities he really wanted to do because of the chest pain so after all this time (17 months) I have to think the cause is something else. He really has seen about every sort of doctor you can think of without any answers sadly.

Nel said:


To return to the chest pain it doesn't sound like what I had; could it be anxiety? My son had very real pain in his abdomen as a small child when worried about school.
I am so sorry you and your son are going through all this uncertainty.



selketine said:

Thanks Nel - I will look for the parents group here!

He's had chest wall pain for 17 months now and that has stayed fairly steady although it seems to be better managed with the pain meds and he also takes a stomach med (protonix). He had an endoscopy to see if it could be reflux and he had some stomach irritation but the doc said not enough to cause the amount of chest pain he reports.

Do you - or anyone else here - know of any measures to take to keep it from getting worse or do people without the painful symptoms just hope it stays the same or gets better?


Nel said:

I am short of time but just want to say don't be frightened by what you read about Erythromelalgia. The people who have it very mildly or are even in remission are not on here telling us about it Lol. Some people it is
14

The triggers described for the flaring are the same as occur with my EM. That sounds very familiar to me. The described chest pain does not.

How long has your son taken protonix and when did he last have his magnesium levels checked? Proton pump inhibitors, such as protonix, create an increased risk of hypomagnesemia:

Risk of Hypomagnesemia. In March 2011, the FDA published a Drug Safety Communication to inform consumers and health professionals that the long-term use of PPIs may cause hypomagnesemia. In 25 percent of patients, magnesium supplementation was not sufficient to correct PPI-induced hypomagnesemia; rather, PPI therapy had to be discontinued. The deficiency did not appear to be dose-related and reappeared after rechallenge with a PPI. The FDA recommends obtaining a serum magnesium level prior to initiation of therapy if a patient is to be on prolonged treatment.

Magnesium acts as a vasodilator within the cardiovascular system. To improve athletic performance, my doctor once suggested magnesium supplementation. Magnesium is also sometimes used as a treatment for erythromelalgia.

From the FDA:

It is not known if PROTONIX is safe if used longer than 8 weeks in children.

If your son has been taking protonix for more than 8 weeks and has not had a recent serum magnesium test, I would discuss this information with your doctor. If the flaring in his legs only began occurring after protonix therapy exceeding 8 weeks, I would consider stopping it.

About the chest pain, is it...

superficial or deep?

focused in one area or diffuse?

constant or intermittent?

and if intermittent, are there any known triggers? Does anything make it go away?

15

Carter,

I haven't been able to login to the Kaiser site for 2 days now (frustrating! says it is down) but I believe he started protonix last summer. His symptoms started around Nov/Dec so he had been on it over 8 weeks at that point. As far as I know his mag levels haven't been checked since he started it. Everything you posted does make me think that the protonix could be the reason. I'm going to forward everything you told me about that to his pedi endo (as she rather than his primary doc seems to be the one helping us the most) and ask her to put in an order for the blood tests. If there are any other blood tests that you think might be useful (like the iron or the red blood cell count) could you let me know? That way he'd only have to sit through one blood draw perhaps.

As for the chest pain, it began in the center of his chest and he always points to the breastbone. It is deep in the sense that it isn't on the skin. He (and his doctors) at first thought it might be asthma but the symptoms he described at the time were unlike any he'd described when he gets asthma. Then the doctor though he had costocondritis which is an inflammation of the chest wall. His symptoms did seem to correspond to that diagnosis and usually that resolves itself within a few weeks. There is no known cause for it but it seems to be common enough that every doctor said that is what he had at the time - and his symptoms fit it. He was (and still is for that matter) in a good deal of discomfort from it and activity doesn't seem to affect it much. He seems to feel better lying back (semi-reclined) or lying down. Sitting up in certain chairs seems to bother him more than other chairs. We did have about 5 million x-rays and a CT scan and he had a slight bit of spine curvature but too slight to cause problems they said. Most of the blood tests were done over a year ago at this point and before the protonix but they were all normal.

The pain seemed to be focused on the center of his chest but he also felt pain that came straight down and around to his back up to his shoulders. It wasn't above the shoulder or down the arms and was not anywhere below the hip. The way he described that part almost sound like a pain that radiated from the chest center and around. The focus has always been on the chest though.

It is constant and never goes away - ever. Sometimes it is worse than others. Sometimes when he says it is the worst is a day that is just an average day with average activity. Sometimes after a lot of activity he will say it is worse - but of course if you did some activity you don't usually do then you can have sore muscles which might just make him feel sore.

The sad thing is at this point really no doctor knows what to do with him or what direction to go other than to keep giving him tramadol. The protonix seemed to be the only thing that helped a bit but I'd say overall it didn't do a great deal. He could switch to another stomach med if there is one that won't have that same side affect (like prilosec or something).

I'm just astounded honestly that you figured out a possible connection with the protonix and the EM flares. I just wonder how many doctors we would have visited to get that even thought of? I can't thank you enough for that. I had thought of just trying to get him to stop it anyway to see if it made a difference but you've given me something to take to the doctor which is much better. If you have any ideas on the chest pain do tell me - feel free to take that discussion to direct messages if you'd like as it may apply to EM or may not.

Thanks again!

Carol


CarterDK said:

The triggers described for the flaring are the same as occur with my EM. That sounds very familiar to me. The described chest pain does not.

How long has your son taken protonix and when did he last have his magnesium levels checked? Proton pump inhibitors, such as protonix, create an increased risk of hypomagnesemia:

Risk of Hypomagnesemia. In March 2011, the FDA published a Drug Safety Communication to inform consumers and health professionals that the long-term use of PPIs may cause hypomagnesemia. In 25 percent of patients, magnesium supplementation was not sufficient to correct PPI-induced hypomagnesemia; rather, PPI therapy had to be discontinued. The deficiency did not appear to be dose-related and reappeared after rechallenge with a PPI. The FDA recommends obtaining a serum magnesium level prior to initiation of therapy if a patient is to be on prolonged treatment.

Magnesium acts as a vasodilator within the cardiovascular system. To improve athletic performance, my doctor once suggested magnesium supplementation. Magnesium is also sometimes used as a treatment for erythromelalgia.

From the FDA:

It is not known if PROTONIX is safe if used longer than 8 weeks in children.

If your son has been taking protonix for more than 8 weeks and has not had a recent serum magnesium test, I would discuss this information with your doctor. If the flaring in his legs only began occurring after protonix therapy exceeding 8 weeks, I would consider stopping it.

About the chest pain, is it...

superficial or deep?

focused in one area or diffuse?

constant or intermittent?

and if intermittent, are there any known triggers? Does anything make it go away?

16

Some quick comments:

Those with diabetic, cancer or lupus are often given a secondary EM diagnosis.

Some have it with bad flares, some with really long flares, some with a worsening condition, others have remission.

Some have it as a kind of side effect perhaps to damage caused by something, but they are not sure. In my mom's case they think her nerves were damaged. We highly suspect the drug Risperdol.

Some reports (from China) talk about students who had this as a result of their body reacting to cold environments. They called it an automatic response where nerves are reacting poorly and sending blood to the feet.

Some early reports from the UK in one article talked about a test where a cell biopsy is done and the cells in the bottom of the feet show Abnormal cell morphology in the biopsy in 80% of the EM cases. My mom had that test and her cells were normal. . . prompting one doctor to suggest she didn't have EM.

In all cases cooling of the affected area seems to help. People use cold water immersion at first. My mom had a fungal infection as well at first. Her skin suffered on her feet. She had toenail damage as well. The cold water immersion didn't help her feet much and may have made her skin conditions worse. One doctor said use a bit of Hydrogen Peroxide in the water with cold water immersion.

For my mom's case which may be unusual she doesn't respond to Tramadol and baby asperin which seems to help some EM sufferers. In many cases EM in the bad cases causes a lot of pain and blood pressure can rise and become dangerous. You can die from high enough BP, so some people end up taking blood pressure meds with their EM problem. Some medications lower blood pressure by expanding arteries, which can cause the blood flow to the feet to be worse and cause more or longer flares and more pain. In my mom's case the Lisinopril is better than what some might think would be a better BP pill that doesn't expand the arteries. Many doctors will say they have read but never saw a case, because they are rare. If you have EM you will become a popular show and tell case to train those who have never seen it before. . . they will be interested in showing you to others who are in training if they get the chance.

Diet can affect EM flares and you're diet may be reduced to reduce the pain. My mom can't have a lot of salt, sweet or hot spicy foods. This limits you're diet.

Cold water immersion can hurt the feet when they are in ice water. Most move on to using cold air and fans with cold air blowing over the feet. Thin socks with water sprayed on them can be tolerated by some. Most end up with their feet on pillows elevated with cold air and perhaps may use spray bottles with cold water to chill their feet. Creams that hold in the heat may make the pain worse. Zinc ointment for example won't work for my mom.

A dermatologist doctor diagnosed my mother's condition as well. She also had nerve velocity studies which didn't show much except a 50% reduction in nerve velocity, what ever that means. The Neurologist at one time used the words EM and Neuropathy interchangably and even used RSD implying they were all the same, but in reality they are not. A person with Neuropathy may have burning feet temporarily and may have numb feet and sharp pains. Diabetics may get Neuropathy a lot more than EM. And sometimes you may get an EM symptom from Neuropathy. But from what I've heard Neuropathy causes you to lose sensation and possibly muscle and foot function as you can't walk and your muscles may kind of waste away. Those with Neuropathy have bad hands and feet and lose capacity to use them often, with pain but more numbing sensations from what I've heard. EM doesn't affect your muscle strength at all. It's more likely to have more feeling, not less and sharp pains may occur from time to time. . . maybe some have both kinds of symptoms so perhaps that's what happens.

Regarding family genetic version of EM, there were only 30 families in the world that had this recognized about two years ago, so that genetic mutation for primary EM is fairly rare. They don't even suggest testing unless you have two members who have it in your family.

Some are misdiagnosed or seem to be with cellulitis. The symptoms can seem to be the same when you're skin gets red and you experience a flare. With a skin infection antibiotics can help.

Regular doctors even skin doctors may be a bit reluctant to medicate you as much if you have a severe case of EM. If it develops into a severe case, you may have to have a pain clinic or Neurologist involved to give the person the heavy duty drugs.

In our case, it seems mom has damaged nerves or a damaged nerve system, that causes her body to react. She also has high blood pressure from the pain. But high blood pressure and EM can feed each other. She had low blood pressure before she had EM. In her case she has a really bad case and her flare has been constant. It was likely at least as far as we are concerned it's highly likely that she developed it as a drug reaction to Risperdol. So her damage and EM may be different from others of course. But EM is a classification of symptoms, with many causes, possible causes or theories on what may have caused it.

Over the years I have read that some say you could develop it (on one side) from hurting your toe or surgery damage. Or from a scratch from a cat. Or from some kind of nerve damage . . . could that be a fungal infection? Or from nerve damage as the nerves seem to be damaged for some, as a drug reaction. My mom reacted poorly to Xanex and could not take that because of mild EM symptoms. Later Risperdol set her off and we stopped it after being on it for 6 weeks. The EM symptoms never subsided and she's had it for 14 years. In her case, her blood pressure can go down by just chilling her EM symptoms with a cold ice pack inside a sock. This quick chilling may cause her blood pressure to fall 60 or 80 points from a very high BP count. This means chilling of the feet can affect pain and blood pressure. She had low BP before she developed EM, so some have guessed or wondered about the cause or could it be merely from high BP. In her case, it seems the BP is a result of pain, of course it feeds back into the pain as well.

We also use Camille Backman's cream with Lanacaine as a 50/50 mix which helps her pain a bit and helps the skin on her feet as her feet are under cold air fans blowing air over her feet constantly both day and night. We also use cold water spray to chill her feet and allow evaporation to cool her feet. At times we use ice packs or ice packs which are artificial "blue" peas from CVS, etc. These can be chilled in the freezer and put on the feet with a sock over the ice pack so it's not to cold.

17



Also at times my mom would have a flare and 80% of the time her Blood pressure on that side was 10 points higher than on the side that didn't have a flare. One or the other side may flare or both sides for her. For secondary EM from an injury, it may only affect one side of the body, one foot for example.

18

Thank you so much for all the information. I can't help but be amazed in the variety of ways this disease manifests itself. Your mom certainly has struggled with it as many do and I'm thankful that my son's symptoms are not as severe. It's possible that it is diabetes related and that's one avenue I'm going to pursue. His diabetes is well controlled and has been since he was diagnosed but anyone with type 1 knows how hard it is to keep the blood sugar in perfect range all the time (impossible really) so that could always have something to do with it.

Thanks again for all the info and tips on what has worked for your mom!

watchman said:

Some quick comments:

Those with diabetic, cancer or lupus are often given a secondary EM diagnosis.

Some have it with bad flares, some with really long flares, some with a worsening condition, others have remission.

Some have it as a kind of side effect perhaps to damage caused by something, but they are not sure. In my mom's case they think her nerves were damaged. We highly suspect the drug Risperdol.

Some reports (from China) talk about students who had this as a result of their body reacting to cold environments. They called it an automatic response where nerves are reacting poorly and sending blood to the feet.

Some early reports from the UK in one article talked about a test where a cell biopsy is done and the cells in the bottom of the feet show Abnormal cell morphology in the biopsy in 80% of the EM cases. My mom had that test and her cells were normal. . . prompting one doctor to suggest she didn't have EM.

In all cases cooling of the affected area seems to help. People use cold water immersion at first. My mom had a fungal infection as well at first. Her skin suffered on her feet. She had toenail damage as well. The cold water immersion didn't help her feet much and may have made her skin conditions worse. One doctor said use a bit of Hydrogen Peroxide in the water with cold water immersion.

For my mom's case which may be unusual she doesn't respond to Tramadol and baby asperin which seems to help some EM sufferers. In many cases EM in the bad cases causes a lot of pain and blood pressure can rise and become dangerous. You can die from high enough BP, so some people end up taking blood pressure meds with their EM problem. Some medications lower blood pressure by expanding arteries, which can cause the blood flow to the feet to be worse and cause more or longer flares and more pain. In my mom's case the Lisinopril is better than what some might think would be a better BP pill that doesn't expand the arteries. Many doctors will say they have read but never saw a case, because they are rare. If you have EM you will become a popular show and tell case to train those who have never seen it before. . . they will be interested in showing you to others who are in training if they get the chance.

Diet can affect EM flares and you're diet may be reduced to reduce the pain. My mom can't have a lot of salt, sweet or hot spicy foods. This limits you're diet.

Cold water immersion can hurt the feet when they are in ice water. Most move on to using cold air and fans with cold air blowing over the feet. Thin socks with water sprayed on them can be tolerated by some. Most end up with their feet on pillows elevated with cold air and perhaps may use spray bottles with cold water to chill their feet. Creams that hold in the heat may make the pain worse. Zinc ointment for example won't work for my mom.

A dermatologist doctor diagnosed my mother's condition as well. She also had nerve velocity studies which didn't show much except a 50% reduction in nerve velocity, what ever that means. The Neurologist at one time used the words EM and Neuropathy interchangably and even used RSD implying they were all the same, but in reality they are not. A person with Neuropathy may have burning feet temporarily and may have numb feet and sharp pains. Diabetics may get Neuropathy a lot more than EM. And sometimes you may get an EM symptom from Neuropathy. But from what I've heard Neuropathy causes you to lose sensation and possibly muscle and foot function as you can't walk and your muscles may kind of waste away. Those with Neuropathy have bad hands and feet and lose capacity to use them often, with pain but more numbing sensations from what I've heard. EM doesn't affect your muscle strength at all. It's more likely to have more feeling, not less and sharp pains may occur from time to time. . . maybe some have both kinds of symptoms so perhaps that's what happens.

Regarding family genetic version of EM, there were only 30 families in the world that had this recognized about two years ago, so that genetic mutation for primary EM is fairly rare. They don't even suggest testing unless you have two members who have it in your family.

Some are misdiagnosed or seem to be with cellulitis. The symptoms can seem to be the same when you're skin gets red and you experience a flare. With a skin infection antibiotics can help.

Regular doctors even skin doctors may be a bit reluctant to medicate you as much if you have a severe case of EM. If it develops into a severe case, you may have to have a pain clinic or Neurologist involved to give the person the heavy duty drugs.

In our case, it seems mom has damaged nerves or a damaged nerve system, that causes her body to react. She also has high blood pressure from the pain. But high blood pressure and EM can feed each other. She had low blood pressure before she had EM. In her case she has a really bad case and her flare has been constant. It was likely at least as far as we are concerned it's highly likely that she developed it as a drug reaction to Risperdol. So her damage and EM may be different from others of course. But EM is a classification of symptoms, with many causes, possible causes or theories on what may have caused it.

Over the years I have read that some say you could develop it (on one side) from hurting your toe or surgery damage. Or from a scratch from a cat. Or from some kind of nerve damage . . . could that be a fungal infection? Or from nerve damage as the nerves seem to be damaged for some, as a drug reaction. My mom reacted poorly to Xanex and could not take that because of mild EM symptoms. Later Risperdol set her off and we stopped it after being on it for 6 weeks. The EM symptoms never subsided and she's had it for 14 years. In her case, her blood pressure can go down by just chilling her EM symptoms with a cold ice pack inside a sock. This quick chilling may cause her blood pressure to fall 60 or 80 points from a very high BP count. This means chilling of the feet can affect pain and blood pressure. She had low BP before she developed EM, so some have guessed or wondered about the cause or could it be merely from high BP. In her case, it seems the BP is a result of pain, of course it feeds back into the pain as well.

We also use Camille Backman's cream with Lanacaine as a 50/50 mix which helps her pain a bit and helps the skin on her feet as her feet are under cold air fans blowing air over her feet constantly both day and night. We also use cold water spray to chill her feet and allow evaporation to cool her feet. At times we use ice packs or ice packs which are artificial "blue" peas from CVS, etc. These can be chilled in the freezer and put on the feet with a sock over the ice pack so it's not to cold.

19

I am interested in hearing more about his Lyrica use. What was his dose, and how did he titrate down when stopping?

I developed EM-like symptoms after stopping Lyrica. I wonder if there is a connection.

20

Soccer,

He stopped the Lyrica awhile ago - maybe last summer? I cannot remember his dose and I don't have the old bottle. I also don't remember being told he needed to taper off of it either.

Isn't Lyrica sometimes used to treat EM? I would say his EM symptoms started months after he stopped the Lyrica - maybe 4-5 months after. Was it the same for you?


Soccer said:

I am interested in hearing more about his Lyrica use. What was his dose, and how did he titrate down when stopping?

I developed EM-like symptoms after stopping Lyrica. I wonder if there is a connection.