Connect
← Return to Anyone out there with Erythromelalgia?
Discussion
Anyone out there with Erythromelalgia?
Autoimmune Diseases | Last Active: 6 hours ago | Replies (290)Comment receiving replies
Hello, I am hoping there is someone here that can help me. I have a 16 year old daughter who is currently being seen by numerous specialists to determine if she in fact has erythromelalgia. Her primary problem is in her hands which swell, become very red and then subsequently severely painful after activity. She has some mild feet involvement which is generally just color change. She has been seen by orthopedics, rheumatology, neurology and today was cardiology. The majority of her providers are at Johns Hopkins. All rheumatology studies were negative. The neurologist is the provider which suggested erythromelalgia and we are looking into possible genetic testing. The neurologist recommended starting with supplemental magnesium for a month and then return to clinic for possible start on gabapentin. The Cardiologist found nothing abnormal and did not believe there was a cardiac component. The frustrating part is no one has really heard of the condition or seen a patient with it so we are sort of spinning in circles. My insurance does not cover Mayo Clinic, but there must be other providers (especially with Johns Hopkins in our backyard) who have some sort of knowledge to let us know if this is, or is not the condition. Does anyone have any suggestions or recommendations of what to do next so that we can find out if she does in fact have this and if not....move on to the next step. Thank you in advance!!
Replies to "Hello, I am hoping there is someone here that can help me. I have a 16..."
Hello @alangrd, I have had Erythromelalgia for about two and a half years now. Sorry to hear your daughter is having these issues. I was initially misdiagnosed, but went to Mayo Clinic in Jacksonville, FL and was quickly diagnosed. It does not sound like that is an option for you. What I can add with regard to genetic testing is that it may or may not give definitive answers. Because it will give positive results for about 80% of Erythromelalgia gene carriers, one can still have the condition and test negative. The test only checks on one particular gene (I believe it’s SN-9). That’s what happened to me. But my doctors still believe that a full X chromosome work up would have yielded positive results.
For your daughter, I can only suggest a log of anytime the symptoms occur. It occurs with exercise for her, but are there any other triggers? Too much salt, spicy food, sugary food, heat/humidity, stress, cardio/exercise, etc. can all trigger flares. Try and take pictures of the flares to show doctors. Also, what time of day is it worse? Erythromelalgia is almost always worse in the evening/night time. Of course, everyone is a bit different but I hope this may help you a bit. Good luck to your daughter on finding relief for her condition.
Connect
Hello @alangrd, Welcome to Mayo Clinic Connect. I know it can't be easy to watch your daughter suffer and not be able to find a treatment that helps. You mentioned the majority of your daughters providers are at John Hopkins. You may find the following John Hopkin's patient story helpful as his symptoms seem similar to your daughters symptoms.
No Longer Stopped in His Tracks: https://www.hopkinsmedicine.org/news/publications/hopkins_pulse/hopkins_pulse_spring_2015/no_longer_stopped_in_his_tracks
Can you contact the vascular medicine center at John Hopkins to see if they are able to help?