I have EM in my feet, hands, and ears. Last April, I was examined by several doctors with the Undiagnosed Diseases Network. I have finally received the exome sequencing results from that visit. They report that I have a mutation in the JAK2 gene, but not the typical mutation associated with EM. Because of this genetic mutation, I have an increased risk of developing Thrombocythemia. I know that myeloproliferative disorders like Thrombocythemia often cause EM and that the EM can show up prior to developing a myeloproliferative disorder, but I have had EM for four years now. My current doctors are advising me to have blood work done every 6 months in order to be watchful in case I do develop Thrombocythemia. I had a bone marrow biopsy performed a couple of years ago and it was fine. How many years can you have EM before developing something like Thrombocythemia? My doctors tell me it could be many years; of course they also tell me that there is no guarantee I will develop it at all. Did any of you have EM for several years prior to developing a myeloproliferative disorder?
The UDN stated this as my possible diagnosis: Erythromelalgia, still of unknown etiology.
I have recently developed new symptoms that may or may not have anything to do with EM. I have multiple joints that are locking up - this began with my ankle and I had imaging done which showed synovitis. I am guessing I have synovitis in multiple joints now (hips, ankles, feet, wrists, fingers, toes are all locking up). I often have excruciating pain in my joints, mostly my knees. However, there is no obvious inflammation in any of my joints.
My knees feel painfully cold all the time, yet they do not change color. When my family members touch my knees, they tell me they feel warm or hot to the touch, but they feel cold to me. Is this somehow EM?
Also, my right foot sometimes turns black. Both feet are icy cold and blue or purple sometimes, but they have never been white like with Raynaud’s. I do not have diabetes or any form of neuropathy. I am at a healthy weight. Next week, I have an appointment with one of the rheumatologists with the UDN that saw me last year. I hope she can help me to figure out what is causing these new symptoms. Anybody else have similar symptoms?
Yes, aspirin was the first treatment I tried. I had immediate results with a very low dose and could not even provoke a flare. It was amazing! I would hold my hand under hot, running water and nothing would happen! I can’t remember how long this lasted…maybe 3 months without a flare? Which was truly fabulous, because I had constant flares that never went away in my hands before the aspirin. Then I started having flares again and upped the dosage of aspirin, but it didn’t help anymore. I finally had to stop taking aspirin altogether because it gave me tinnitus. I tried aspirin again a few months ago, but unfortunately, it didn’t help. It may be that I didn’t take a high enough dose, but the tinnitus started up again, so I stopped.
So sorry you’re going through all these symptoms! The description you gave with the icy cold blue purple feet reminds me of acrocyanosis, especially if there’s none of the white spasming like with Raynauds?
Most medications that help EM take some time to work their way into the system, if aspirin didn’t hurt you too much before it sounds like it might be worth another shot while giving it a longer trial, like 2-3 months.
I wanted to let you know that you are not alone with these symptoms, while I do not have a myeloproliferative disorder I cant help with that question. I too periodically suffer from severe joint pain in kness, ankles and hands with no inflammation.
Sometimes when my feet are dependent for a period of time they are icy cold and turn purple without the blanching.
Prior to taking/showing photos to Dr.'s, one suggested I had acrocyanosis. I think this may be why my Dr. wants to try me on a Calcium Channel blocker but I always remind him that I already have low blood pressure. It is not uncommon for the skin to be cold or cyanotic in between episodes of flaring.
I do wish you find a treatment that helps you cope with this.
Aspirin seems to help me also. How much do you take. I take 650 mg a day but not sure if that is enough and how much is too much. I tried this on my own.
No, my feet do not turn black. Purple, white, red, but not black. I wanted to bring this up, only because there has been a correlation on the support group sites I belong to. When we finally figured out my feet were EM and my hands were Raynaud’s, I thought my ears and nose were also EM, though the nose and ears were not dependent on time of day. Last year, I had horrible tinnitus, pain in my ears, a feeling of fullness and sinus infection that had continued. It turns out, my ears, nose and joint pain are related to another rare autoimmune disease called Relapsing Polychondritis. I have since discovered that there are many of us who are affected by RP, EM and small fiber neuropathy. I do not know what your other symptoms are, but it is worth looking into. The areas most affected for me are the ears, nose, ribs, sternum and back. I was just diagnosed a couple of months ago, it is rare so most doctors are completely unaware of it.
I have EM secondary to Polycythemia Vera , which is also a myeloproliferative neoplasm. I had symptoms of EM intermittently for several years before I was diagnosed with either condition. The EM steadily worsened until it was causing me discomfort all the time. Aspirin did improve the way I felt somewhat but the EM eventually took over my life. My internist started me on Gabapentin, which made a big difference. Lyrica proved to be somewhat better but it wasn’t until I added Cymbalta that I saw marked improvement in my EM. My toes are often purple & swollen—I assume that’s the PV & not the EM ( I’m in the 5% that do not have the JAK2 mutation). Anyway, that’s my story in a nutshell—I’d be happy to answer any other questions you might have
I don’t have myeloproliferative disorders. I do have what the vascular specialist feels is Vessel wall instability which mimics Raynauds and erythromelalgia. So I have both ends of the spectrum but it is not predictable. For example, on the test when she put my feet in ice water, my circulation actually improved instead of worsening. But heat always triggers the erythromelalgia. My legs and feet (and lately hands) turn bluish/purple when I stand very long at all and I have very bad pain. I have to have my legs elevated most of the day.
I do have a question for you. You mentioned the ‘Undiagnosed Diseases Network’. That’s new for me. I’ve been searching for a diagnosis now for 7 years. Was it hard to get approved? Also, is there a cost as insurance these days is state-specific?
Thanks! Hope you can find some answers.
As for the aspirin, in recent months I took 650 mg/day. I worked up gradually, but perhaps not gradually enough, because the tinnitus drove me insane; I had to stop taking it. It wasn’t helping my symptoms this time anyway.
I have a list of possible illnesses that I want to address with the rheumatologist when I see her this week: Synovial Chondromatosis, Seronegative Rheumatoid Arthritis, Lyme disease, Postural Orthostatic Tachycardia syndrome, and Relapsing Polychondritis. I will add Acrocyanosis to this list - thanks for the suggestion. And thank you, Susie, for mentioning the Polychondritis. I was already curious about that one because my earlobes do not turn red when my ears flare, which seems to be characteristic of Polychrondritis.
I saw one rheumatologist right after my joints began to bother me and she diagnosed me with fibromyalgia because I tested negative for everything else. However, I had zero of the typical 18 tender points, so I need a second opinion. Also, I thought that fibromyalgia involved muscle pain, which I do not have.
I haven’t heard of vessel wall instability; I’ll have to ask the rheumatologist about that.
Anyone can apply to be examined by the Undiagnosed Diseases Network. Here is the website: https://undiagnosed.hms.harvard.edu/apply/
Insurance is not involved since it is research. If you are approved, they will cover your expenses. I am going back to see one of the doctors with the UDN that examined me a year ago, but I will use my insurance to pay for this visit. It took me about a year to be approved because they wanted me to go ahead and have several tests done to rule out possible illnesses. It was a very positive experience for me and I highly recommend it!
OMG didn’t we have enough to contend with with just EM? I just read your note and for the heck of it I looked in my genetic raw data and there JAK2 was on both strands. Why couldn’t that be the gene that grows boobs?
My EM has improved. I don’t know if I’m just getting used to this level of pain, my nerves are burning out, or it’s really better.My Palms will become lobster red, ill expect pain shortly and then just a slight burn. Not even ice worthy.
Needless to say, I’m grateful to God as EM is a progressive disease. I still have electrical shocks go up my arms and down my legs into the tops of both feet. As a matter of fact, just writing about it has made me think about it and I’m starting to tingle. Fortunately my flares don’t last too long.
My is with this board & Everyone on it.
Patricia
So I had a really good visit with the rheumatologist this week. She spent an hour and fifteen minutes with me and gave me a thorough examination. She said I definitely do not have fibromyalgia and she found no evidence of any type of arthritis. Since my joint pain came on all of a sudden, she suspects I had a virus – Fifths Disease – and now the antibodies are clumping together in my joints which is causing pain. The joint pain can last up to 15 months after the virus began. I am exercising through the pain. Riding my bike in the morning before it gets hot has been helpful. It’s one exercise that doesn’t bring on the EM flares. My knees hurt like heck while biking, but they feel so much better within an hour and the relief lasts for several hours.
The rheumatologist thinks my black foot is just part of EM and she suggests that my cold knees are my dysfunctional nerves acting up.
As of right now, the UDN has three people in its system with unexplained EM, one of which is me. They are currently comparing our genetic tests to see if there are any similarities. I’m encouraged that they are interested in us and am hopeful that something good will come from their research.
When I first went to a rheumatologist in 2015, I also had an MRI I was told showed synovitis. On the basis of that information I was errantly diagnosed with seronegative rheumatoid arthritis. Considering the rarity of erythromelalgia, I question whether or not the radiologist who interpreted the MRI understood what they were seeing in the image. I was flaring right before the MRI.
I just read your note and for the heck of it I looked in my genetic raw data and there JAK2 was on both strands. Why couldn’t that be the gene that grows boobs?
is with this board & Everyone on it.