Hope everyone is having a great summer so far! I wanted to post an update on everything that has been going on. I first saw my pediatrician in November who did lots of blood tests since she couldn't establish any cause for my symptoms of red flaring up hands and feet with a constant burning sensation. When my blood tests came back as "normal", she sent a referal for me to see a rheumatologist in December as a diagnosis was unsuccessful. While waiting to get seen by the rheumatologist, I saw a family friend who is a dermatologist. He mentioned erythromelalgia could be a possibility, but he thought it would be unlikely because I am so young. I finally met with a rheumatologist who immediately established erythromelalgia as my diagnosis. In order to ensure something else besides erythromelalgia wasn't occuring, I had to do another round of blood tests in order for everything to be evaluated. These tests came back negative as well. The doctor said this is an extreme rare disease most doctors are unaware of and that the only reason she was familiar with it is because she had a diagnosis in Portland with a male around the same age as me (19) who had the same symptoms. I am the second case she has ever seen in her career. I also tried a trial of aspirin and topical diltiazem (this provides very short relief). I had a follow up appointment where the process for me to go to the Mayo Clinic in Minnesota was started (June 2015). I talked their office today and her report and referral letter were received on July 1 and each individual case is evaluated by the doctors at the Clinic for determination of whether I will be seen. If admitted, I will know by next week. This facility has a team of doctors all with different expertise who will evaluate my individual case and I will have a better chance of finding out whether I will have bone marrow cancer anytime soon (this is the main reason my family wants me to go down there). Since this is such as extreme rare case of erythromelalgia, I believe I have a good shot of being admitted. My rheumatologist said this facility is the only facility in the US that is only focused soley on erythromelalgia. Some notes I wanted to share from her report include:
Evaluation for secondary causes including vasculitis, myeloproliferative disease, HIV and connective issue disease. Small fiber neuropathies can cause this as well and would require a skin biopsy. Sjogren's can cause a small fiber neuropathy but he lacks sicca symptoms and this would be very rare. Most cases of erythromelalgia are idiopathic especially with early onset disease. There can be familial primary disease and genetic testing can be done in this setting. He has also noted a response to cold temperature which is often seen in erythromelalgia. On physical exam he has evidence of erythromelalgia and mild swelling of his feet. This is consistent with erythromelalgia which is very rare outside the setting of polycythemia vera (bone marrow).
I will keep everyone updated and if I am admitted to this clinic I hope to be able to bring some answers back that could be of help for people suffering. Please message me if anyone has any direct questions for me. Thanks and hope everyone is having a great day
Hi josh12, I'm glad you are making progress. My fingers are crossed that you get accepted. And a big double thumbs up to your doc for knowing about EM.
If anyone has got questions it would be great to keep them on the public forum so that everyone can benefit.
Hi Josh. Great to hear from you again and thanks for the excellent update. You are lucky to come across a rheumatologist who knows all about EM and I hope the referral to the Mayo will be successful. That’s quite a trek, Denver to Minnesota but worth it to see people who know what they are talking about.
All the very best
Nel
Hi josh12 - Good luck with it all - Please keep us here (EM site) informed and updated and I'm sure all of us wish you well with it and hope that the Mato Clinic will take you in ....
Hi josh12, I sincerely hope you are admitted. I went to the Mayo Clinic in April and that is where I got a diagnosis of EM in my foot. I also was diagnosed with small fiber neuropathy (SFN), which I believe resulted in EM.
Have you had your B12 tested? I had burning feet for over a year before diagnosis of pernicious anemia (caused B12 deficiency), and I feel caused SFN and EM as well as other issues. Most doctors never think of B12 deficiency, requires a separate blood test. Get the number, don't settle for being told you are in the normal range. The cutoff typically used in the US and UK is 200 pg/mL, but this is FAR TOO LOW (Japan uses 450). If your level is under 400 then you need treatment as neurological symptoms are known to occur in the gray area of 200-400. My B12 was 196, barely under the minimum, and I had severe symptoms and ended up with permanent nerve damage.
graciousgeekgirl-The majority of my pain and burning is in my hands, generally not as bad in my feet. I will talk to my doctor about B12 testing. My white blood count was 5.5 1000/uL, Hemoglobin 16.3 g/dk, Platelet Count 246 1000/uL, Albumin 4.9 g/dL H. The rests of my tests had "negative" next to it
graciousgeekgirl said:
Hi josh12, I sincerely hope you are admitted. I went to the Mayo Clinic in April and that is where I got a diagnosis of EM in my foot. I also was diagnosed with small fiber neuropathy (SFN), which I believe resulted in EM.
Have you had your B12 tested? I had burning feet for over a year before diagnosis of pernicious anemia (caused B12 deficiency), and I feel caused SFN and EM as well as other issues. Most doctors never think of B12 deficiency, requires a separate blood test. Get the number, don't settle for being told you are in the normal range. The cutoff typically used in the US and UK is 200 pg/mL, but this is FAR TOO LOW (Japan uses 450). If your level is under 400 then you need treatment as neurological symptoms are known to occur in the gray area of 200-400. My B12 was 196, barely under the minimum, and I had severe symptoms and ended up with permanent nerve damage.