Skin Biopsy Results
 

My neurologist office called me this morning to let me know that my skin biopsy was positive for small fiber neuropathy. They asked me to come to the office tomorrow for more specific blood work that they send to a specific lab called Athena.

I didn’t speak to the doctor, but the woman that called said that the small fiber neuropathy is responsible for the tingling, pain, numbness and dysautonomia (including gastroparesis). I asked the woman who called about the cause and she said that the doctor would talk to me about that when I come in for my appointment Feb. 15. They should also have the additional blood work at that time.

I wonder what additional tests they would need. Apparently I have to sign off for them. I already had a bunch a lab tests last week.

Mere

Sorry you have SFN, but you can join the club here! Bad news, good news?? At least you have a diagnosis of it now and can proceed from here. I was kind of relieved in a way to get the diagnosis. Shocked but relieved, if that makes sense.

Sounds like they are testing you for hereditary neuropathy. I think Kitt will give you more info. She is familiar with Athena testing.

Also sounds like your doc knows what he is doing!

Oh well, a bit shocked but once I became aware of the symptoms and what they meant, I kind of figured that it was apparent. I am relieved that I have a definite answer.

I went to the Athena site and it certainly does sound like genetic testing...that would explain the consent form.

I am indeed very fortunate to have found my doctor. All of these years that I have been ill and he is the first to put it all together... after a countless number of doctors and some at teaching hospitals. Now to see if he can find a cause. I am not going to get my hope too high.

Very happy to be a member here... :) Mere

Sounds like genetic testing to me too.

Keep us posted!

Thank you, I will know a bit more after Feb. 15 (my appointment). I think my neurologist is very thorough. He told me initially that he suspected SFN and that he would try his best to figure it out. That it may take some time, but he would figure it out...

I hope that to be true.

Mere

i just checked out that athena site, they sure have a lot of tests for hereditary PN. I had a panel done with them but that was to test for autoimmune markers.

Athena can only test for SOME of the genetic markers. There are so many.

I was told it was too expensive...lol. It ended up OK, since I ended up with autoimmune markers in my blood. One can have both though.

It can be very expensive if you have to do a whole panel of testing - at least for CMT. However, Athena does have a plan to help with the cost. Your insurance might also help.

As far as CMT, they can now test for 22 + types. But, just because they cannot come up with a type, it does not mean that you do not have CMT. It would just be a type that they cannot test for. There are 50 types identified so far and there is no end in sight.

I asked my doctors office if my insurance would pay for the cost of testing and they said "yes". And, that they are calling my insurance to get the authorization. I have no idea of what specific tests they are doing.

Well, I hope it is covered, I can't really afford it...

Mere.

Yes, I will ask tomorrow when I go in for the testing. I certainly cannot understand the insurance companies not covering necessary testing... How rude of them saying it is too expensive cyclelops.

I will find out tomorrow. Thank you for all the information guys. I feel a bit calmer about 'things' now...

Meredith

Oh, this doc exhausted all possibilities by then....he said it was autoimmune from the getgo, and I didn't believe him. I do now, lol. As I said, people can have more than one thing, so you never know.

I hope you get answers.

I would definitely say AI for one, perhaps there are additional reasons but your ANA is very high. Mine has never been that high. I am sort of borderline at 1:120.

I've had some Athena testing done in the past--
 

--along with some testing from Specialty Labs of Van Nuys, CA--and not only do they do a lot of herediatry/genetic testing, they also can do testing for some of the more obscure causes of small-fiber neuropathy. My amyloid testing, for instance, was done through them (and, given your autonomic symptoms, this is definitely one possibility I though of). I also had specialized Epstein Barr titres done through them to measure antibody levels to specific antigens, the pattern of which can often point to certain obscure cancers (fortunately, didn't have any of those).

Do let us know exactly what tests are ordered--get a complete list, even if only abbreviations--we can figure 'em out. :D

If your insurance pays the tab, I would definitely get the testing!

On my ANA, it was negative for so darn long, then it went sky high...no in between. My diagnosis has been all over the map, over the 10 years it has taken. Seems like the lip biopsy 10 years ago was the best predictor of my issue....altho, it doesn't definitively identify the disease....just autoimmunity. Just because a lip biopsy is +, it doesn't mean for sure it is Sjogren's. Lately every one with Sicca, says they have SjS.

If your ANA is negative, I would definitely look at the hereditary angle....makes consumate sense to me. I am impressed your doc thought along these lines. Keep in mind, that even a negative test for hereditary neuropathy, does not rule out that issue. As Kitt said, there are many gene 'mutations'. Also, that new mutations are added every few months. It is an evolving field.

I do so hope you get answers.

I went to my neurologist today to sign the consent form for testing through Athena Labs. Fortunately, I was able to see my doctor briefly and he said he is testing for additional AI and "inflammatory" markers, and also amyloidosis (hereditary and non-hereditary).

I received a copy of my skin biopsy test and it reads 3.70 (normal is 5.7 for calf). It states "skin with significantly reduced epidermal nerve fiber density, consistent with small fiber neuropathy". The thigh reading was normal which is good I suppose.

Amyloid testing was normal on the skin biopsy - guess he just wants to be sure.

Mere

Hey Mere,
Well at least you know now. It is always kind of a shock.

Mine was 2 fibers, and that was 6 years ago....I bet I have zilch now, if that is even possible.

The joys of this condition.

Oh my goodness, Cyclelops... I thought mine was bad. I am sorry.

I feel like an empty oil drum, lol....you can holler down my mouth and hear an echo, where stuff used to be. ugh...not a good analogy.

I'm fine, really.

LOL, we just have to tell ourselves that we are fine... It's tough though. You have an amazing attitude from what I can tell through your writing.

Mere

Well, lol, some days are not so good, good, good......Hello down there, there, there.....:Wave-Hello:

I think next time I see my neuro, I am going to ask him if it is time to repeat that skin biopsy? I am curious....I don't know tho if they will want the expense to satisfy my curiosity.

Echo-y is a good way to describe how my 'core' feels.

I can think of some other words to describe my core at times... Echo-y is a good one though.

I did read on the Therapath site that it is helpful for the neurologist to see the results of skin biopsies from time to time. To get an idea of progression.

Mere

I am glad you understand. When I say echo-y, my docs look at me like I am nuts.

Yes, I just love that puzzled face that doctors like to make. :rolleyes:

'Echo-y' sounds very logical to me...

Mere

I had my first Skin Punch Biopsy about 3 years ago, which confirmed SFN. I am having another one done tomorrow morning for the same reason you mentioned...curiosity. And my neuro agreed that it would be helpful by way of monitoring progression as well.

My first biopsy was taken at my right ankle and right hip. The hip was supposed to be the "control" to help determine how bad the ankle was. My pain was, and still is, mostly in my feet but both biopsies (ankle and hip) showed up as "abnormal" with very low small fiber nerve density.

I was originally diagnosed with peripheral neuropathy. That was wrong...I saw a specialist and they repeated the EMG's and its now small fiber neuropathy. At first I was relieved that it wasn't PN. Now, I'm not sure if I should be relieved. I'm waiting for my PCP to get the report and then I guess we'll figure out where to go from here. I guess I'm still stunned by this and kind of depressed and bummed out about it. :(

Small-fiber neuropathy--
 

--is just a subset of peripheral neuropathy, referring to preferential damage to the smaller, unmyelianted or thinly myelinated fibers that subsume the sensations of pain, temperature, and many autonomic functions.

It cannot be detected through standard nerve conduction studies or EMG's, as these only measure larger, myelinated sensory and motor nerves. Sometimes quantitative sensory testing or specialized autonomic testing, such as sudomtotor axon reflex testing, reveals it, but the current gold standard is skin biopsy to measure intraepdiermal nerve fiber density and condition. (There are also some other non-invasive methods being tested to detect small-fiber damage, such as refractive light microscopy, but these seem to have a way to go yet.)

Small fiber neuropathy IS PN.

Anything outside the spinal cord is PN...small fibers are considered outside the spinal cord.

EEO3,
There are 2 main systyems.... the Central nervous system, and the Peripheral nervous system. The Peripheral system is anything outside of the central system.
Neuropathies (damaged nerve cells- either large or small) occur within the peripheral system, more frequently. (I think because there are more nerve cells there).
PN encompasses any nerve cell damage, anywhere in the body (hands, arms, legs, feet, stomach, heart, etc) that is not in the central (spinal column and brain) system.

You may also hear of small fibers referred to as thinly myelinated or unmyelinated or C fibers....one and the same.

Thanks, I understand that these are all peripheral, but I get the sense that there are inherent differences in the symptoms and pronosis, or maybe my fuzzy mind isn't grasping what I'm reading. I believe the neuro ruled out something by comparing the current results with those obtained 7 months ago. I guess I need to wait to see the report and discuss what further tests are being recommended.

With PN, or small fiber neuropathy, prognosis MAY depend on what is the underlying reason for the SFN to begin with. Often they try to find out if it is the result of some disease. If it is idiopathic, prognosis is more difficult to predict....on the other hand, all neuropathy is difficult to predict.

Once you get the test results you will have more direction.

Waiting is hard, and it is always as shock to get the diagnosis.

small fiber neuropathy
 

Don't accept the etiology is idiopathic. There is a "root cause" for every medical problem, but too many neurologists just don't have the knowledege about small fiber neurology or the procedures available to find its cause. Don't let doctors give you excuse to give up because of their ignorance. There is an etiology, and once that's discovered, there's a cure. Mike.

I agree Mike,, I am tired of suffering due to there ignorance,, I;m just tired of not sleeping,, waking up all hours of the nights,, sweating then freezing, Its like living in a body that just teases us with pokes and prods,,
Havning a family that doesnt understand it doesnt help either, sometimes I think it would be much easier to take teh bridge,, I;m just tired of teh balance problems,, shoes that feel like lead weights, and arms that just refuse to work right,, go to grab something and overshoot it,, fine motor skills about shot,, every night thinking,, maybe tomorrow it wil be just alittle bit better,, but it never is,, thats why i;m onhere at 5am,, stomach that doesnt work,, told them about that months ago,, but of course they refer you to another (specilist), I;m tired of specilist,, shoved between one and another, one gets tired of getting someone to take you there,,
Back to my family,, ther so used to seeing Dad and husband take care of things that they think as long as I;m walking and breathing,, then I must be ok,, I try to explain what its like,, but its not sinking in,,