Fabry disease?

Appenrly this disease can mimic Erythromelalgia, lupus and ms and is often commonly misdiagnosed. Anyone ever heard if it ?

Just read your post. I have been suffering from EM for 3 years, this fall, I was sent to genetic neurology at the Hotel Dieu hospital in Montreal Canada. The genetic neurologist, not very friendly but seemed knowledgeable, did two blood test, one to send to a lab in Germany or Netherlands to find out if I had primary EM (mutation of scn9a and another blood test for Fabry. I have not yet gotten the results but to answer your question, yes, apparently Fabry can mimic EM
Hope this helps

I've heard of it, it was mentioned when I was being worked up by the Rheumotologist. It does have some very similar presentations, I find the mentioning of Raynouds to be very interesting as well. Although not quite as rare as erythromelalgia , it is interesting that it is traced down to a missing enzyme. Wow...200,000 grand for treatment! I think it is something to be aware of while we seek proper medical diagnosis, treatment and follow up.

I notice it is also listed in our Ben's Friends network. If you think this might Apply to you, perhaps you should look into the Fabry network on this site!!!

I was tested for Fabry Disease around 4 years ago, at UVA in Charlottesville. I think that researcher has passed away and they don't test there anymore but I'm not certain. They sent the blood sample to Mt. Sinai in NY I believe, and it took a few months to get results. Result was officially "inconclusive", but running the tests (because I'm female) was so expensive and time-consuming for the lab that they only checked for 90% of the possible mutations that can cause Fabry. Then the doc wanted a symptomatic male relative to be tested with the urine test. But my family doesn't have many males and all our burning feet people are female.

I tried to find out if the feet of people with Fabry, when they are burning, get very red and very hot to the touch. But I never could get an answer on that. That would make it easier for EMers to decide whether they should be tested. For the initial screening, to see if I should be tested, UVA mostly wanted to know about family members and ancestors with renal failure, strokes and heart conditions that occurred at a relatively early age. My other docs didn't think I should be tested because they thought (mistakenly) that females are only carriers and don't get symptoms. Not True!

Hi. I live in Kalamazoo too. Do you see a local doctor and if so could you give me their name? Maybe we could connect via email or phone. Let me know. Lisa

Yes, Kalamazoo. I am getting tested as I have MS (so we think that I do for 24 years). Also was told way back that I have Lupus too, although my current doctor doesn't think so. I have Raynaud's pretty bad. Now all of a sudden my feet get neuromas, arthritis, bursitis and now Erythromelalgia! I'm disgusted and in pain. I read that Fabry's is sometimes the diagnosis that was missed so possibly I'm not suffering from MS. Conversely, it could be that the EM is secondary to the MS. My neurologist is puzzled but still wants me tested for Fabry's. There is no one in my family that suffers from MS or EM.

The doctor did explain that MS can cause secondary EM. The autonomic nervous system is now failing. (MS is mainly a central nervous system condition). So we will find out in about two or three weeks.

I'll be back. Hope you are coping.

Fabry (or Anderson-Fabry) is an inherited metabolic condition. You may be interested in THIS informative article. Good luck with your investigations, Ann A.

Thank you Jules G,

I am getting tested through a research team headed by Dr. Robert Desnick at Mt. Sinai Hospital in NYC. Dr. Desnick formulated the replacement enzyme that is missing in Fabry patients. I have MS and my neurologist and I have a suspicion that I may have Fabry's. It's a long shot but must be ruled out. My feet are very painful and red for almost 6 months. I do suffer from Raynaud's disease so EM is most likely the cause due to the MS and possibly secondary to that illness, so says my neurologist. I'll let you know the outcome. Thank you so much Jules, I'll be back in a few weeks, I hope with the outcome. Not sure how long the tests will take.

Hi Jules G and all,
Sorry I haven’t come back to let you know the outcome of my testing. I have tested negative for Fabry disease. My doctors, (neurologist and rheumatologist) have concluded that my Erythromelalgia is a direct manifestation of the Multiple Sclerosis which I have been diagnosed 25 years. I am trying to manage the best I can. Like many here I have several autoimmune conditions. They just keep piling up on me. My rheumatologist has prescribed Methotrexate as she is most concerned with the Relapsing Polychondritis. I forget how long ago I was diagnosed but think it was about 9 or 10 years ago. I have not begun to take it. I think I’ll start it next week. I wanted to make sure my neurologist didn’t object. He called me back yesterday and said it’s fine, it may help your MS. I’m nervous to take it. I’m hoping it helps the EM the most. I wish you all well. It’s tough fighting but it’s worth the fight! I see many people with deadly diseases who fight every day. Be strong.