NeuroTalk Support Groups - Possible reason for incorrect skin biopsy results

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- - Possible reason for incorrect skin biopsy results - Therapth (https://www.neurotalk.org/peripheral-neuropathy/231502-reason-incorrect-skin-biopsy-results-therapth.html)

Just so everyone here knows: If you question the accuracy of your biopsy, then by all means have it re-read. Johns Hopkins accepts tissue samples done outside and their pathologist will read them again. Tissues are frozen and stored for long time periods, so no problem in having this done. In many cases, insurance will pay for these 'second opinions' and this includes second readings...you'll have to check with your own insurance company.

I also can't emphasize enough to have the morphology (condition of the fibers itself) checked...and Therapath does not include this as part of their services (they only check density). Johns Hopkins does...as does other major institutions. This is so important, especially if your biopsy was negative and you still don't have answers...but you still have symptoms.

Just a thought.

Quote:

Originally Posted by en bloc (Post 1195761)

I believe Hopkins developed the procedure in the first place. Mine was done there and the report stated both number and condition of fibers as you said. Results were devoid at ankle, reduced at knee, and segmented and breaking down at upper thigh. The condition of the fibers is an important clue to the progression. It clearly indicated an advanced, progressive, length dependent SFN. Both the doctor at Hopkins and my local neuro said it was pointless to repeat as it is progressive. ( I have hereditary neuropathy, CMT) my EMGs are also abnormal, so I have a diagnosis. A diagnosis doesn't always mean there is a treatment.
If you are in any doubt about results definitely consider Johns Hopkins.

Quote:

Originally Posted by Healthgirl (Post 1195748)

I don't think we are in opposing positions here.
My SFN is suspected to be autoimmune due to a very high ANA, that went up in correlation with the severity of my symptoms. Even though this is suspected, they cannot or will not proceed with any treatment, so this is the main reason why to me, it was more upsetting to know that there is actual damage. I also have absolutely no prognosis.

I definitely understand your point about this disease being labeled as fibromyalgia or having no name at all. I was fortunate to have had one of the early doctors I dealt with who was very serious and was sure there was something terribly wrong. He prompted me to go right away to the city. It took 4 months after landing in the emergency room a few times to have someone decide to do a biopsy.

I hear the stories of people who have gone years with being told this misery is all in their heads. I was told I had lyme, fibro, dystonia, raynauds., sjogrens... I don't even remember what else. So, the skin biopsy settled that, but still leaves me nowhere in terms of treatment or having my life back.

For what it's worth, my biopsy results for the ankle was borderline and the thigh was significant. My symptoms in my foot and calves are ten times worse than my thighs (thighs are bad too, and that is where I get the vascular rash) - but if you'd asked me, I would have thought the ankle damage would have been worse). They didn't take any samples from my upper body where I have muscle spasms, tremor, lack of coordination, etc. Also, one emg was abnormal and one was normal, so what use were those?

When was your biopsy? Are you due for a retake? In your situation, if you have doctors who would do IVIG, then it would make sense. Personally, I don't want to have it redone. I can't bear hearing if it is worse because they will not offer me ANY treatment whatsoever.

I am going to a toxicologist and a functional md next week. I'll update when I hear what they have to say and hopefully will have some new avenues to share.:)

Obviously I can't contribute to the best lab/ skin biopsy side of things because I'm in the UK/ Scotland. But if I had a high positive ANA here this would defintely lead to a diagnosis, probably of Lupus but perhaps of Undifferentiated Connective Tissue Disease (UCTD) - both of which would lead to treatment here fairly rapidly on the NHS (ie free) So that is shocking that you can get these kind of results with no treatment plan built in. This is the only reason I would want my results (especially ANA) to be positive. Is there any way of appealing this decision? I just don't understand how you can be left untreated while suffering and deteriorating.

I can't access any treatment now because my RA has gone from positive and symptomatic to negative and non symptomatic - so I'm told the SFN must be non-rheumatic because of wholly negative autoantibodies. No one has ever mentioned Fibro to me or tried to suggest it's a product of my mind but I have so many friend who have had this lazy type of diagnosis that I'm paranoid!

Yet I also have several friends now in England who have less showing up in their blood work and CSF than me, but who have been diagnosed with Lupus, Sjogrens or UCTD. But in my case I don't feel I'm ready for immunesupressant treatment again having tried and had severe reactions to four so far. I am preparing to try and find a good functional doctor here too but it's hard to know whom to trust. My rheumatologist is still keeping me on his list in case the joints flare again or a vasculitic rash shows up. He would defintely be treating you if you were his patient! Good luck xx

Quote:

Originally Posted by Susanne C. (Post 1195768)

You are correct, Susanne...Hopkins developed the skin biopsy. Not only is the condition of the fibers important for progression, but also when some cases that density is normal, yet condition shows signs of damage. This can happen in autoimmune presentation of SFN...especially at the beginning, when proper diagnosis is so crucial for early treatment options.

Second opinions are not just for doctors...second opinions can be for biopsy interpretations as well. Especially, if you don't think the testing/evaluation/sample/etc was handled or done properly. It doesn't matter who did the biopsy, or what reason you want another opinion...it is your right to have it done to make sure the correct diagnosis is being made and your treatment reflects that Dx.

En Bloc, my morphology was normal (at the calf at any rate), but I and the neuro and pretty much everyone else are convinced that it's autoimmune. I take it that occurs also?

Also, other than Hopkins, are there any other great ones. How about Corinthian Reference Lab?

Quote:

Originally Posted by en bloc (Post 1195787)

In autoimmune based neuropathies, it can appear with or without abnormal morphology.

I am a bit surprised that you only had ONE site biopsied. There is no way to determine length or non-length dependent neuropathies unless you do more than one site. Why did they only do one? That is pretty rare, I think.

I am pretty sure other large, well known facilities, will accept outside samples for re-review. I just know for sure that Hopkins does because mine was done there and my neuro mentioned it in random conversation. I think Glenn has also brought this up before and I believe he listed several in the NY area. But I don't know about TX, David.

It is very unusual--

--to have a skin biopsy for intraepidermal nerve fiber density done at just one location, because, as en bloc points out, one can't get an idea whether the neuropathy might be length-dependent that way.

Usually, samples are taken right above the ankle and at the side of the upper thigh, which are the areas for which the original norming at Johns Hopkins was done back in the late 90's--I've been talking about this in the other thread that RunWriteMomHeal started:

http://neurotalk.psychcentral.com/thread231571.html

Sometimes samples are also taken from the upper arm and near the wrist, which were normed later at various institutions and can also show length dependency.

Among the facilities that have the electron microscopy and pathology interpreters to do this are:

Johns Hopkins (Baltimore)
Cornell Weill/Columbia Presbyterian (New York)
Jack Miller Center (Chicago)
Massachusetts General (Boston)
Jacksonville Shands (Jacksonville, Florida)
Washington University Neuromuscular Center (St. Louis)
University of California at San Francisco Medical Center

There may be a few others now, but this is not something that your average hospital does.

Than you both, En Bloc and Glenn. While unusual in the US, it's typical practice where I am, where the test is not done in the country, certainly not in the region, as a typical procedure. So the samples are sent to the US and since the state picks up the tab, you need approval. It's costly, so when approval is granted (just pro forma, they never decline), a single sample is sent. It's not ideal, I know, but it was all I could get here. I would have certainly preferred something more thorough, say though JHU. Perhaps I'll try to go through them next time, if my neuro agrees and the state grants permission.

It's interesting Corinthian Reference Lab is not as well known. I think they're affiliated with a top SFN clinic in Phoenix, but I'm not sure.

Quote:

Originally Posted by en bloc (Post 1195818)

I was only 4 1/2 months into my SFN journey and running around like a chicken with its head cut off trying to find out what was wrong with me when I asked my foot and ankle dr to do a skin punch biopsy.

He agreed and took two samples right above my ankle and no where else. My results from just that one biopsy site were 0...no A and C fibers left. (Bako Labs)

This was done before I joined this wonderful site and I had very little knowledge of what to ask for. If I had known I would have asked for several sites to be tested.

Did he only do one site because he's a foot/ankle dr ? Did he only do one site because I was very new to whatever was happening to me and he just did the one site because I asked for the biopsy myself instead of him suggesting it ? Because I was only complaining of my feet ?

I have no idea and I'm in Georgia, USA :D

Guessing I got the short end of the stick ? :rolleyes: It has now traveled to my legs, arms, hands and mouth area.

Just wanted to let you peeps know my biopsy story.

Debi

Debi,

I would 'guess' you are correct that he only did one site, because he is a podiatrist and doesn't know enough about neurology and length dependent neuropathy. A good neurologist would always do two sites. Your doctor was concerned with your feet, since this was your main complaint, so he was likely only addressing that area and nerves closest to the foot.

At least he did this and you had a clue what was going on. There are still many people with clear indications of SFN that are only getting NCS and EMG's (neither of which can show density or damage to the small fibers). The biopsy is a bit pricey, so many have to fight to get it done...many of which lose the battle and gone on with no answers.