I’m from Sydney, Australia and would love to meet others with my conditions. I’ve had EM since I was a little girl, and CRPS was diagnosed in 2005, post ankle reconstruction.
Is there anyone else on this site with both conditions? If so, would love to know if anyone has any tips on dealing with pain for both conditions.
I don’t have CRPS, but my doctor did do a differential diagnosis between EM and CRPS when considering what I had. I’m knowledgeable of both conditions.
Which is more of a problem for you, EM or CRPS?
Thank you for the warm welcome. I have had EM since I was a little girl and with every decade it spread to other parts of the body. But it was manageable, until I was 36 years of age and needed a total ankle reconstruction, due to a torn ligament. My surgeon at the time said that I will be up and running in three months time. Unfortunately, when he took the cast off he diagnosed CRPS. Not only that, but EM also went to a much higher level, where I could no longer have both feet on the ground, and needed them to be elevated above the heart or at least at hip level. CRPS has now spread unfortunately to become full body due to an accident that took place at hydrotherapy. An elderly gentleman did something he should not have been doing, Lost his balance and grabbed on to the closest person to break his fall. Unfortunately that with me. From that moment on both disorders became much worse. I am now mostly homebound and can I longer run my beauty therapy business as I once did. I have caregivers coming in several times a week to help me. So unfortunately both disorders are at the final stages, my professor said. He said unfortunately, there is nothing more we can do to help you. All avenues have been exhausted. He also said the drugs I need for EM have not been invented yet. Yet he said, they are doing research.
Hope, I’d give you a hug if I could! That all sounds very difficult. Medical journals have scatter shot reports of varied treatment options that have been successful for EM. Since you’ve had EM for decades, I’m sure it can be challenging to remember all you’ve tried. Is your doctor certain he has exhausted all options? The medication that has been successful in my case is a sodium channel blocker. Has your doctor tried that class of drug?
Hi Carter, thank you for your words of compassion, it was so lovely to receive your email today. Both my doctors in my 20s and my 30s had told me that there were no drugs available at the time. So I managed the condition as most people do by putting my hands under cold running water and avoiding very hot temperatures. I have never tried the drug that you are referring to, but I will definitely be bringing it up in my next consultation. A couple of years ago I had a one week Ketamine infusion in hospital and was so hopeful and excited, but unfortunately had a severe and negative reaction to it. When I came home I was struggling to walk even more and from that moment on needed a walker and also had to look into a specialised wheelchair with elevated leg rests. Three times I have been told that there are no medications for EM, by three different doctors. So never looked further as I trusted their judgement, but I can tell you from now after having read your success story and the success of others in managing the condition it has inspired me.
May I ask about your story, I’m assuming you are able to function and lead a normal and fulfilling life? May I ask what you do for a living? It sounds like you may even have a medical background.
May I ask what your trigger was EM and besides medication what have you found the most helpful? Did you find changing parts of your diet or any other area of your life made a big difference? Thank you in advance for sharing your wisdom!
If I had listened to the advice of my doctors, I would almost certainly be in a very bad place today. I would have suffered needlessly and possibly without end. I was initially misdiagnosed with Rheumatoid Arthritis, on account of my mom having the disease, even though no blood work or radiograph pointed in that direction. I became suspicious of the diagnosis within days because my symptoms did not line up with RA. I took the immunosuppressant methotrexate for 2-3 weeks before laying out the case to my rheumatologist for a much more exotic diagnosis —erythromelalgia. He was skeptical, but I persisted. Eventually he said it was outside his realm of expertise and I moved on to another doctor.
I then saw a half dozen physicians in a variety of specialities over a handful of months. Some were willing to listen, others not so much. The hematologist I worked with, who had treated me for anemia 18 months prior, ordered phlebotomies on my suggestion, since my hematocrit had become slightly excessive. I did find they were beneficial, but ultimately unsustainable, after 4 over a 2 and a half month span.
The phlebotomies were part and parcel to my kitchen sink strategy, where I vowed to throw everything I could at the malady until something worked or I had exhausted all options. I worked off the hypothesis I would have but a narrow window of time to halt symptoms before damage became irreversible. While that may or may not have ultimately been accurate, it did give my search an urgency that aided in finding treatment.
The origin of my erythromelalgia remains unknown. I sustained a knee injury while running that proved to be stubborn. Three months later it seemed to morph into something altogether different and jumped to the opposite side, as well. I then had two painful knees and an increasing sense of dread something was terribly wrong. I still was not having any outward symptoms, however. I went to a rheumatologist, who assured me all was fine after my blood work and radiographs came back normal. But then a month later my knees started to appear outwardly red and it became apparent something was indeed wrong.
After I muddled through the aforementioned misdiagnosis and series of ill-informed doctors, I ended up seeing a very bright anesthesiologist and pain specialist. He believed I had CRPS, but with the following caveat —CRPS is typically unilateral, while my symptoms were bilateral. EM is usually in the distal extremities, but my symptoms were primarily at the knees. Thus, my symptoms didn’t neatly fit either and he decided to do a differential diagnosis between the two. He ordered a bone scan to look for the atrophy typical of CRPS and wrote a prescription for a sodium channel blocker as treatment for erythromelalgia, which he said was the best option. I had gone into the appointment with other prescription ideas from having read this forum, such as the anti-convulsant Pregabalin (Lyrica) and various SSRI’s and SNRI’s. So while I was surprised to hear him say the name of a drug I had not heard of as the best treatment option, I deferred to his judgement.
The bone scan came back normal, in so far there was no evidence of atrophy. But the prescription he wrote — oh my! It turned off my symptoms in little more than 24 hours. The difference was immediate, remarkable, and unmistakable. Three years later it continues to hold steady. The drug I’m on is a non-selective voltage-gated sodium channel blocker. The pharmaceutical company Pfizer tested a candidate compound as a selective voltage-gated sodium channel blocker on patients with primary erythromelalgia a few years ago.
I have a fitness background. I am a certified personal trainer.
Hi Carter, firstly my apologies for misspelling your name. I just noticed that while using the audio function it sometimes can get things wrong.
What an incredible story you have to share. And how clever of you to follow your instinct in medical matters. It has been a great encouragement to me and I’m sure to many others on this forum. I have used lyrica in the past but unfortunately did not work on me. I currently take high doses of gabapentin which was prescribed to me for CRPS and also a low dose tranquilliser in the evening, as the pain signals keep firing and not allow me to get enough sleep in the evening. I’m so thankful that these medications exist even though they only take the pain down one notch. I’m looking forward to the day when we hear some news on a breakthrough for our condition and many others.
Wishing you a good weekend!
Hi Carter, hope you are well.
I just returned from speaking to my doctor and was asked to find out the brand name and the generic name for the sodium channel blocker that was so successful for you in the last three years.
I sure hope it’s available here in Australia. Looking forward to hearing back from you. Thank you so much.
The drug I take is mexiletine and is manufactured by Teva. It was once sold under the brand name Mexitil by Boehringer Ingelheim, but I don’t think they manufacture it anymore. Mexiletine is the oral analog of lidocaine, the commonly used local anesthetic.
To my knowledge, Teva is the only manufacturer of mexiletine in the entire world. Teva is an Israeli multinational generic drug maker. It is concerning there is only one manufacturer, considering how important the drug is to me.
Mexiletine as treatment for erythromelalgia was first noted in 1999 in JAMA Dermatology (Journal of the American Medical Association). The case study is linked below.
Thank you so very much for letting me know what the drug is called. I too would be concerned if there was only one manufacturer worldwide. Thank you for the link to the article, I’ll be printing it off and taking it to my new specialist next month.
There was a more recent study on mexiletine as therapy for erythromelalgia in the journal Pain in May 2017. It is a very complicated read, but some salient points stick out.
The purpose of this study was to evaluate whether EM has changes in axonal excitability and the influence of temperature and mexiletine on axonal excitability.
That’s pretty straight forward, axonal excitability being the processes of activation of ion channels.
Multiple excitability indices (stimulus–response curve, strength–duration time constant (SDTC), threshold electrotonus, and recovery cycle) were investigated in 23 (9 EMSCN9A+ and 14 EMSCN9A−) genetically characterized patients with EM stimulating median motor and sensory axons at the wrist. At rest, patients with EM showed a higher threshold and rheobase (P < 0.001) compared with controls.
There were 23 EM patients in the study, with 9 having the gene mutation found in the SCN9A encoding gene of voltage-gated sodium channel subtype Nav1.7 and 14 not having the SCN9A mutation. The SCN9A mutation is the known etiology of inherited primary erythromelalgia.
Among our SCN9A+ patient cohorts, only 4 patients reported clinical improvement with mexiletine, accompanied by a 1- or 2- point reduction in Faces pain rating scale.
As previously noted, mexiletine as treatment for erythromelalgia is not always effective and may only be effective for SCN9A positive patients.
Concerning the episodic excruciating pain in patients with EM, a frequently used treatment of this disorder are the sodium channel blockers such as lidocaine and mexiletine. This nonselective partial block of voltage-gated Na+ channels targets segment 6 of domain IV of the alpha subunit. Clinical response varies and suggests that genotype may be important.
I’ve never been tested for the SCN9A mutation, but this study would seem to indicate I likely have it, considering the effectiveness of mexiletine for my symptoms.
EDIT: It’s not clear from my reading whether mexiletine was only administered to SCN9A+ EM patients or if it was only effective for SCN9A+ patients and ineffective for SCN9A− patients.
The full paper can be read at the link below:
Thank you so very much for all of this extra information. This will be a great help when I see the new specialist next month. I appreciate you taking the time to summarise this for me, it has been really helpful. Hope you’ve had a good week.