Small Fiber Neuropathy, Pots, Immunodeficiency...

[juliegee]

I'm starting a new thread as there seems to be a group of us struggling to understand HOW small fiber neuropathy (or any neuropathies), POTS, and other conditions fit together. I just came across a fabulous article that really connects some of those dots: http://neuroskinbiopsy.mgh.harvard.edu/FinkandOaklander.pdf

This article leads me to believe that POTS can rarely occur with SFN, but SFN is not the cause per se. There is an underlying cause for the SFN too.... This is very much like peeling an onion .

I searched your content, AZ Girl. It answers some of my questions- Thank you so much. I still have more, sorry! For those of you DXed with SFN, what were your symptoms? My feet burning is only intermittent. When my MCAD/autonomic symptoms flare- so does that.. Does anyone else have MCAD (or weird allergy stuff) with this?

Thanks in advance for any help-

Julie

[janiedelite]

When I got my testing and SFN diagnosis done at Mayo Rochester, the neurologists there said that having mono in 2006 was the cause of my SFN and POTS. He didn't know which one came first (SFN or POTS).

My symptoms are burning feet, face, hands and mouth (that includes a metallic taste). These symptoms worsen with heat, activity, stress or caffeine. Gabapentin has helped along with alpha lipoic acid and, surprisingly, when the desmopressin I take is in full effect I don't have the burning pain. Wierd.

[Christy_D]

My son has POTS and small fiber neuropathy. He does not have any symptoms with his small fiber neuropathy(that I'm aware of). They diagnosed him with sfn after the thermoregulartory sweat test. He does not sweat on his torso and most of left arm, and has reduced sweating elsewhere. I asked what the significance of the sweat test with the sfn was, and they told me it just built more evidence for the POTS diagnosis?

He doesn't have any pain with it and isn't being treated for it, unless it is all just lumped in with his POTS treatment. I was also told by another doctor, that without a skin biopsy the sfn diagnosis can't be for sure. He thought it could also be something to do with the central nervous system, especially when he saw the pattern where my son wasn't sweating. No further testing was done.

Hopefully our trip to the Mayo in MN in October will bring us more answers.

Christy

[Guest maia]

Hi Macks Mom. i think this may be the paragraph that is confusing you...

Damage to autonomic small fibers is also common (1). Patients can develop symptoms of vascular

dysregulation, such as swelling or color and temperature changes in their feet. Their skin may become thin

and shiny because keratinocyte mitosis rates depend on small-fiber innervation (2). With widespread

involvement, internal organ dysregulation can develop, such as impaired gastrointestinal motility (diarrhea

or constipation), bladder or sexual dysfunction, and, rarely, blood-pressure abnormalities or cardiac

dysrhhythmias. Of course, many polyneuropathies affect other types of axons to a greater or lesser extent,

so large-fiber symptoms such as weakness...

'damage to autonomic small fibers' is SFN

This paragraph describes SFN and some of the symptoms they can cause. ie, vascular dysregulaton, internal organ dysregulation, blood pressure abnormalities, and cardiac dysrhythmias. It is not saying that POTS occurs rarely with SFN. What it is actually saying is that SFN is the cause of these symptoms-which includes the symptoms that are called POTS.

I think the article then goes on to describe some causes of neuropathies and im guessing if i read the whole thing that it probably states that causes can not always be found,etc.

If you are not used to reading medical literature, it can be confusing.

Hope this helps.

and nice analogy with the onion...

[HopeSprings]

Therapy

Infrequently, the underlying cause of small-fiber dysfunction is identified, and disease-modifying therapy

can be instituted. More commonly, the treatments for small-fiber neuropathy revolve around the treatment

of pain.

This is the part that scares me. I don't need relief from the pain - I can handle the pain. It's all the "dysautonomia" symptoms that debilitate me. I'm afraid I'm going to go back to this Dr. and he's just gonna offer me some Neurontin or something.

[jbenz1772]

It is my understanding that my POTS is a result of my SFN. And my SFN is idiopathic. I didn't really get a whole lot of explaination from the neurologist. She just put me on meds for the symptoms and told me to stay away from stress. I see her every 3 months to see if they are helping.(unless she cancels due to meetings.) I just coast. Most of my info I get from this board. Since our last appt, the digestive stuff(which I thought I wasn't going to have) have gone into hyperdrive and I want to talk to the dr about mestinon.

Seems to me stress and hormones are my biggest triggors. I get burning, icy-hot feelings in my feet and legs, numbness/tingling in my right hand and fingers. Muscle twitching in upper arm and thighs,leg cramping and pain which is now happening in my gut(bizarre),constipation until my period, then diarrhea and nausea, also get chest pain. This is in addition to the POTS stuff, tachycardia, syncope, migraine aura.

ChristyD,

My sweat test revealed complete sweat loss from the waist down and 40% from the waist up. I only sweat on my wrists and my hair line above my forehead. Funny I have a harder time in the cold weather than the hot.

Jennifer

[potsgirl]

I was diagnosed with SFN at Mayo Scottsdale about 9 months ago. It started abruptly with burning feet, then the hands/wrists became extremely painful, as did my feet/ankles. Some mornings it feel as if something had broken my hands and fingers with a hammer. I have a lot of pain with this, daily, and am taking Gabapentin and ALA for the pain. It doesn't seem to do much, until I miss a dose and the pain escalates to a point where I can barely handle it.

My doctor says it's from my POTS/OI, and I had the skin biopsy done to make sure. The test came back positive, and it's difficult to manage on top of the other POTS/OI symptoms. Christyd - did they do the skin test on your son? I thought the only test that could definitely show SFN was the skin biopsy? I guess it doesn't matter - he's not having symptoms and the only thing they can do for SFN is treat the pain...if there are other treatments available, please let me know!

Cheers,

Jana

[juliegee]

Thankful-

I have long noticed that many of your symptoms are similar to mine- especially the severe reynauds and pernio. Interesting that you have the SFN too. I have since read studies linking the two. Do you ever get such severe vasoconstriction that your digits turn blue? Have you ever found effective treatment for that?

Maia-

Thanks for your interpretation. I need the education! I think we are getting caught up in semantics. I have no doubt that SFN is the underlying microscopic neural explanation behind our vascular dysregulaton, internal organ dysregulation, blood pressure abnormalities, and cardiac dysrhythmias BUT not the ultimate CAUSE of them. The article goes on to explore the various causes, such as diabetes, etc. To my understanding my SFN (and subsequently POTS) would be caused by my connective tissue disorder/autoimmune issues/immunodeficiency. BTW, that article DOES say blood pressure abnormalities & cardiac dysrhythmias rarely occur with SFN. That's poppycock in my mind- as evidenced by so many of us here

Christy-

I PRAY you get more answers at Mayo!

Naomi-

I am totally with you. The pain that I experience is usually quite bearable- the autonomic stuff, shutting down of my GI tract, trouble urinating, etc. is the SCARY stuff. Every article that I read says the same thing re. treatment: treat underlying causes (if found.) IVIG is the exception as it CAN be a treatment for the SFN, itself. I find it interesting that in Arizona Girl's case (and mine) the IVIG would treat TWO conditions- the immunodeficiency & the SFN.

I'm still trying to figure out how the mast cell stuff plays into all of this. I found a few research articles in which mastocytosis was found to be the cause of SFN....I keep peeling off layers of that onion

[Guest maia]

Macks mom... lol, i think you are right. it seems semantics is a part of this-lol, but its also interpretation of the wording which can be tricky sometimes in medical text. Sorry to beat this horse so to speak, but it is important.

'With widespread involvement'... 'and, rarely, blood-pressure abnormalities or cardiac dysrhythmias...'

What this means in the context of this article is not that SFN rarely occurs with these Sx. It means that SFN rarely progresses to the extent that it causes widespread involvement... including these Sx ...POTS, etc... ie, we are the lucky ones because we got the worst of it...

Its a seemingly simple difference in interpretation, but when it is flipped around, it is medically incorrect.

[janiedelite]

Hi Mack's Mom!

I've never had the issues with blue fingers or toes like you have... just the perniosis that made the tips of my toes purple and my feet were pale blue and chilblained but I could always restore proper circulation by warming them. I believe that this symptom was directly caused by the high norepinephrine levels I experienced while standing. As I've treated my POTS, this symptom has gotten somewhat better. The best treatment, believe it or not, was wearing compression hose. It sounds counterintuitive but the hose probably decreases the sympathetic surge I experience while upright.

Another med that has helped has been paroxetine/paxil.

The best med I've ever used in regards to all of my POTS symptoms, including flushing, is desmopressin/ddavp. Unfortunately this is a med that only works for me for 4-5 hours and I'm only allowed to take it twice a day. While I'm on the DDAVP, ALL of my POTS symptoms are lessened - even the burning pain! It's by no means a cure, but shows that my POTS symptoms are a result of being hypovolemic. Now what's causing the hypovolemia is most likely the vasomotor neuropathy/small fiber neuropathy.

[juliegee]

Another name for the same horse:

http://www.theaword.org/index.php?option=com_content&view=article&id=669:erythromelalgia&catid=124:new-additions-to-the-aas-article&Itemid=51

[janiedelite]

MacksMom, I actually had a dermatologist who diagnosed me with erythromelgia (EM). The thing is that my hands and feet may get red while they're below my heart, as soon as I raise them they turn pale again. I actually met a woman with erythromelalgia and her foot was horribly red all of the time (although elevating gave her a smidgen of pain relief). It made me hurt just to look at her . There are different types of EM, but like POTS, there is most likely a neuropathy cause. There is familial EM that starts in infancy and genes are felt to play a role.

And there are times when my feet look more blue than red. I was part of an EM forum for over a year and there were some EM sufferers who also had Raynaud's.

Those darn neuropathies!