I Have Small Fiber Autonomic Neuropathy. Yay! Lol

[RichGotsPots]

Just got the results of my skin biopsies. I had very abnormal results and have small fiber neuropathy. I'm very excited about it, because I'm hoping it will lead to a cause of my POTS, which I think is autoimmune. The lab that analyzes the test is https://www.therapath.com/

They also do testing for mito. Too I think since they do muscle biospy labs..

I don't know the details of the results yet. Like what % of nerves are missing. They are sending for bloodwork and they want to send me for autonomic testing at a local hospital, even though the dr knows ai already had 2 TTT, so I'l find out all the detail tomorrow when I call the nurse who is arranging everything.

[issie]

Yayyyy ---Rich ---finally, getting some answers! Keep us posted.

Issie

[bustersacc11]

Did you have done epidermal nerve fiber density test and sweat gland nerve fiber density test? I had two biopsies sent John Hopkins for analysis. I was told small fiber neuropathy has its own set of symptoms and the autonomic neuropathy has its own set of symptoms. If you have both then they can start looking for that link that is causes both, like autoimmune, etc. has you mentioned. I hope they find answers!

[Chaos]

Exciting to finally be getting some answers! Congrats!

[Guest Alex]

Rich,

glad to hear you're starting to get some answers. One step closer to a proper diagnosis and treatment for you!

Keep us in the loop.

Alex

[anna]

As horrible as my comment sounds I am glad they found something abnormal in your biopsies! At least it may lead to answers.

[arizona girl]

Oh Rich, I sooo know how you feel. I too knew my biopsy would be abnormal, it so crazy that we would be happy about that, but of course we are happy because now we can prove that it isn't crazy in the head.

So the magic doors now open to further diagnostics, a new beginning to looking once again, I hope they find your underlyer so you can get it treated.

So alli lu ya!

[RichGotsPots]

Well I got my results back and One biopsy for SGNFD was 19 and the other was 25 and both say anything below 36 is abnormal so I'm guessing that 19 one is very abnormal. The Efnd was normal in one and low normal in the other. Not sure what it means.

I just faxed over a bunch of blood work I did so he doesn't re-order the same tests. The nurse said he is testing for 15 different thing especially diabetes. But I got a general diabetes test done just not a fasting one because I cant wake up early enough for it :/ also he want to send me to JFK hospital in nj for autonomic testing which is curious since he knows I already got two autonomic tilt tests... We'll see if they have more advanced testing...

[arizona girl]

Hey rich will you pm our member Achilles, he needs referral's near new york and you may have resouces for him. He needs some support. Thanks dearie, it will be interesting to see what all you found out. Love to get a closer look at your lab report. I don't think my neuro did more then the sfn.

[badhbt]

What kind of symptom would point you in the direction of a skin biopsy? I am new to all this and have a clueless medical team, unfortunately.

[arizona girl]

Hey bad,

If you google or search the forum for the small fiber neuropathy autonomic neuropathy, there is a lot of info out there, it be better for you to read the symptom list from an actual medical article. I don't have time right now to search it for you.

[corina]

Really glad you're getting some answers finally Rich!

[Katybug]

So glad for you, Rich! It's about time you started getting some answers!

[bellgirl]

Glad for you Rich, but sad at the same time...This is what I've found out lately for myself. I'm equivocal for SLE-70 (systemic scleroderma), 115, and 120 is positive, and I also have Fibromyalgia. I've never been tested for Small Fiber Neuropathy, but maybe I should do so also!

[Altruism]

Congrats! I never ever thought I'd be praying for a bad test result and I am happy you got yours.

Badhbt, I think QSART test rules out autonomic small fiber neuropathy. Why is a biopsy needed?

[Natops]

I was dx with sfn through qswart. The muscles in my feet and leg are in chronic pain/burning. I have been dx with autoimmune disease (Lambert Eaton)

[RichGotsPots]

QSART is good but according to www.therapath.com the lab who analyzes the biopsy, skin biopsy is more sensitive.

Also since a lot of people will probably find it tricky to find a good Neurologist who does it, i did a little searching and found a Neuropathy org that has a list of medical centers that test for it by state. The other route is to look for neurologist who deal with pain. Even though having sfn doesnt mean you have pain like large fiber, these doctors might also be aware of skin biopsies and QSARTS.

Here is the list:

http://www.neuropathy.org/site/PageServer?pagename=Resources_PNCenters

[ramakentesh]

QSART is usually considered the gold standard.

[ramakentesh]

IVIG here you come?

[Guest mattgreen]

Rama - do you feel IVIG is appropriate in response to a finding of SFN?

[ramakentesh]

Assuming it means that a person with POTS and SFN has neuropathic POTS then chances are it is autoimmune and chances are it would respond to IVIG. But its very expensive and only certain research centres will consider it at present.

[arizona girl]

I can speak to this from experience. I get ivig. I was first diagnosed after a failed tilt table and a positive skin biopsy showing small fiber autonomic neuropathy. Before the skin biopsy became available Qsart was the gold standard, I think the skin biopsy really is the standard now. However, my neuro did say that Qsart together with SFN biopsy is best. He explained SFN can be patchy and you have a better chance of uncovering it with both tests. Their autonomic lab is fairly new. So, it will be interesting to so how it works out in real practice. They however pioneered the sfn skin biopsy. My neuro is also listed along with rich's at the neuropathy association. I got lucky and was referred to him by another local neurologist I went to after the failed ttt.

They also do a lot of clinical trials for other neuromuscular disease like ALS and MS, and have partnered with mayo scottsdale on seizures. Anyway, he wanted ivig as first line treatment, my insurance denied, as I wasn't showing a polyneuropathy which is approved. He then prescribed pheresis which I did for three months until I got an infection and anemia, common side effects which are associated with pheresis. My autonomic function bp/hr became almost normal during pheresis. Which proved in his opinion that it was autoimmune. I had a history of very elevated ANA's, was told in the 80's it was mixed connective tissue, then fibro, then lupus, but nothing really stuck and none of the treatments were very effective. I continued to get worse. I think in your heart you know when it is autoimmune, whether the labs prove it or not. I've since been finally diagnosed with hashimoto, uctd and lichen.

At the time of the infection and anemia following pheresis, followup blood work showed I was also immune deficient in igg and igm, an earlier lab had showed I was borderline low, with an infection I was tanking. I also had a history of abnormal ig/ratios found on the cbc. I'd also had a lot of infections over the years and never run a high fever with them. At that point I qualified for ivig as I had hypogammaglobulinimia or cvid. I was started on high dose in part to also go after the SFN. It took longer for the ivig to show improvements then pheresis, but they did come. The most noticeable improvement was that the buzzing neuropathy of my feet and legs when I laid down at night and the all over terrible body pain I would get premenses went away. I'm also no longer swinging high to low on the BP and my heart rate pretty much stays under 100 now. Not perfect but better. I have been reduced down to about half of the ivig I was on and have noticed a bit of a creep back, but nothing like it was. I also have had only two infections since starting, after walking around with very low grade fevers for years and not knowing I was fighting infections because the fevers weren't notable. I no longer get a low grade fever and if I do get one, I have a standing cbc and if my wbc is elevated I get rocephine antibiotic shots to knock the infection down. This is proving very effective.

Rama is right ivig is being used in the research setting for SFN and has not yet been FDA approved yet. I think that is just a matter of time as the other neuropathies that are approved have found it to be an effective treatment and is easier to administer then pheresis. I have though heard of other patients that are getting it for SFN, don't know how they got their insurance to approve it.

If you go to primaryimmune.org there is a fairly long list of ivig FDA approved diseases.

My dysautonomia seems to present as both neuropathic and hyperandrenergic pots (high bp/hr with elevated norepi on standing) along with presyncope/syncope. It is also obvious at this point that I have an abnormal immune system and am also homozygous for MTHFR a gene defect.

I'm grateful for the progess I have made, it is however not a cure and will require ongoing treatment. Hope I was able to provide some insight, happy to help if I can.