Erythromelalgia

Posted by txbren @txbren, Aug 27, 2018

Are there any patients with erythromelalgia? Have you been successfully treated at Mayo?

@emfm4me

Hello januaryjane, I do have flare in my hands, face, and ears from time to time. Usually they are in my feet. My symptoms have improved since I began taking Mexiletine. But I have found that certain foods, conditions, and stress/illness can still trigger flares.

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Are you diagnosed? Yes, mine is triggered by those too. What are your face and ear flares like??

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@januaryjane

Are you diagnosed? Yes, mine is triggered by those too. What are your face and ear flares like??

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Yes, I was diagnosed by a rheumatologist at Mayo Clinic, who I still see. The face/ear flares are similar to the ones in my feet. There’s redness, burning, and skin is very hot to the touch. Sometimes there’s some very slight swelling. I used to get swelling in my feet to the point where I could not walk. If you haven’t been diagnosed yet, take photos of the flares to bring to your doctor. It’s helpful for diagnosis. Hope this helps you.

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@emfm4me

Yes, I was diagnosed by a rheumatologist at Mayo Clinic, who I still see. The face/ear flares are similar to the ones in my feet. There’s redness, burning, and skin is very hot to the touch. Sometimes there’s some very slight swelling. I used to get swelling in my feet to the point where I could not walk. If you haven’t been diagnosed yet, take photos of the flares to bring to your doctor. It’s helpful for diagnosis. Hope this helps you.

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Yes, im in the process. Thanks. May i ask how long it took to diagnose? Was it ever misdiagnosed??

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@emfm4me

Yes, I was diagnosed by a rheumatologist at Mayo Clinic, who I still see. The face/ear flares are similar to the ones in my feet. There’s redness, burning, and skin is very hot to the touch. Sometimes there’s some very slight swelling. I used to get swelling in my feet to the point where I could not walk. If you haven’t been diagnosed yet, take photos of the flares to bring to your doctor. It’s helpful for diagnosis. Hope this helps you.

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Also, what was your diagnosis process?

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@emfm4me

Yes, I was diagnosed by a rheumatologist at Mayo Clinic, who I still see. The face/ear flares are similar to the ones in my feet. There’s redness, burning, and skin is very hot to the touch. Sometimes there’s some very slight swelling. I used to get swelling in my feet to the point where I could not walk. If you haven’t been diagnosed yet, take photos of the flares to bring to your doctor. It’s helpful for diagnosis. Hope this helps you.

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I wake every morning with a flared face. Pink or red and the heat index varies with the color. Luckily it settles after about an hour or so.

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@januaryjane

Yes, im in the process. Thanks. May i ask how long it took to diagnose? Was it ever misdiagnosed??

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For me it took a few months. At first, I was diagnosed with Raynaud’s Syndrome. My first rheumatologist was less experienced. I didn’t agree with the diagnosis, and due to other health issues, sought a consult at Mayo.

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@januaryjane

Also, what was your diagnosis process?

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I brought in photos and a list of symptoms. If you go to someplace like Mayo, you’ll be asked for previous medical files and imaging that pertains to your case. But, my doctor took one look at my photos and said it looked like Erythromelalgia. Mayo tends to see the rare disorders at a higher frequency, so that was to my benefit. They also asked me to go get my blood drawn to rule out any other disorders or identify any other co-existing rheumatoid conditions. Good luck with everything.

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Hi,Im getting ready to talk to a Dr. for the first time about my Erythromelalgia symptoms. He is a highly recommended Rheumatologist. My appointment is for other for other concerns,but have figured out these symptoms since then. Sorry if this is all over the place..but should I contact him and see if he is familiar with this beforehand? I think i should, but not sure how to go about it. Also, i get very tired and have trouble concentrating at the appointment. What can i do to prepare…as in writing things down to remember and such or even physically? Any advice would be great, thanks.

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Yes, write down all your questions, and don't leave the office until you have answers — AND take someone with you who can write replies on a note pad

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@januaryjane

Hi,Im getting ready to talk to a Dr. for the first time about my Erythromelalgia symptoms. He is a highly recommended Rheumatologist. My appointment is for other for other concerns,but have figured out these symptoms since then. Sorry if this is all over the place..but should I contact him and see if he is familiar with this beforehand? I think i should, but not sure how to go about it. Also, i get very tired and have trouble concentrating at the appointment. What can i do to prepare…as in writing things down to remember and such or even physically? Any advice would be great, thanks.

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@januaryjane I agree with the suggestions given by @emfm4me and @lois6524 . Having things written down and photographs will help a great deal. Also take someone with you. Someone who knows you and will be your advocate. And don’t let yourself be afraid of the doctor—he is here to help you. I know you’ll do well. Can you follow everyone’s suggestions?

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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!!

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@alangrd

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!!

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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?

Liked by HankB

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Thank you @johnbishop! I actually have already spoken with Dr. Ratchford. She recommended seeing the other specialists first as she is an adult provider and my daughter is only 16. I do plan to follow back up with her (via email) as she suggested. She was incredibly kind to assist me since my daughter was not a patient of hers. I appreciate your response!

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@alangrd

Thank you @johnbishop! I actually have already spoken with Dr. Ratchford. She recommended seeing the other specialists first as she is an adult provider and my daughter is only 16. I do plan to follow back up with her (via email) as she suggested. She was incredibly kind to assist me since my daughter was not a patient of hers. I appreciate your response!

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@alangrd, that is really good to hear! Can you give us an update when you are able to follow up with Dr. Ratchford?

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@alangrd

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!!

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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.

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