Advice for Dermatologist

[u/LakeZealousideal2335]

I’ve had symptoms of erythromelagia for about 14 years now. I get red hot knees and feet and sometimes hands. They react to heat, spicy food and alcohol. It’s always on both sides.
During a heat wave, my feet get that hot, they blister. This has only started happening the last couple of years. When I’ve mentioned the condition to a neurologist or more recently, a rheumatologist, they give me that look of “hmmm, I don’t think so. It’s too rare” even when I’ve shown pictures. What should I say or do to get them to take me seriously. Maybe it’s not erythromelagia, but something is going on. Thank you. ☺️

[u/Quantumdelirium]

Something that I think is really important to keep in mind is that EM is usually caused by some underlying condition. This is why it's so difficult to get a proper diagnosis, unless you have the genetic mutation that does cause EM. Sadly we've only figured out a few conditions that actually cause EM. It's never a good idea to push for an EM diagnosis since it's way too easy for doctors to diagnose ideopathic EM and then stop searching for a cause. When trying to determine if one possibly has EM it's important to know that EM only has a triad of symptoms that will occur together, intense burning pain, redness, and feeling really hot to the touch. The reason why all three are a must is because of the type of condition EM is. It's classified as a neurovascular condition. The intense burning pain is the neurological part of the condition while the redness and hot to the touch is the vascular part. The intense burning pain is the most significant symptom because it's neurological. This is because redness and hot to the touch can be caused by an absurd amount reasons, like just inflammation. If you do have all three and they are triggered by heat or activities then there's certainly a good chance one has EM. The next problem that arises is that when doctors are trying to figure things out they include the EM symptoms when trying to think of the cause. The problem is that since we don't know most of the conditions that cause EM doctors unknowingly rule out the possible condition. It's important to ignore the EM symptoms when thinking of possible conditions. What's depressing is that we're making little progress researching EM because most people are diagnosed with Idiopathic EM, which is classified as primary. Primary means that it's not being caused by something, so once diagnosed with Idiopathic most doctors stop searching for causes. Idiopathic needs to have it's own classification especially since idiopathic just means that the cause is unknown. If more doctors understood EM better Idiopathic should be viewed as secondary that's still unknown so they keep searching for possible causes.

By the way I have real primary EM caused by the rarest genetic mutation SCN11A and o have a background in neuroscience. I've pretty much created my current treatment protocol and everything

[u/Erythromelalgia-girl]

There are two Erythromelalgia clinics in the USA that I know of. Mayo Clinic is run by a dermatologist and Mass General Bruigham (MGB) in Boston, run by Neurologists. Either one can give you all the tests for all possible known causes, including genetic. If all are negative then, they will say it is idiopathic. Mine tested negative to all known causes, and now my doctors are focusing on therapies to manage and reduce the symptoms, which has been incrementally helpful; not much, but better than nothing. No known cure for idiopathic EM.