Small Fibre Sensory Neuronopathy

[en bloc]

Originally Posted by villier

Hi Glentaj thanks again for the information, I have been tested for sjogrens as for everything under the sun but nothing has shown up as to what is causing this, I have had very specialised blood tests done mri scans, emg, skin biopsy and the paper test in my eyes(can't remember what it is called) so do not know if there is much left to test, I will probably see my consultant on Wednesday when I am on the ward to get my Ivig I must ask him if it is idiopathic.

I'm curious villier what testing you had for Sjogren's. I have both Sjogren's and ganglionitis/neuronopathy from it. As you may be aware up to 40% of people with Sjogren's are sero-negative, so you can test (lab) negative yet still have Sjogren's. So I was curious if you had a lip biopsy that was negative also?

[villier]

Originally Posted by en bloc

I'm curious villier what testing you had for Sjogren's. I have both Sjogren's and ganglionitis/neuronopathy from it. As you may be aware up to 40% of people with Sjogren's are sero-negative, so you can test (lab) negative yet still have Sjogren's. So I was curious if you had a lip biopsy that was negative also?

Hi en bloc, Sorry just seen your post, I have only had the eye test for Sjogrens which was negative and have not had a lip biopsy done, I think the only reason they did the eye test was I have a dry mouth, living in the UK we do not get to see reports of tests that have been done as you do in the States, so regards to blood tests I dont know any results or what they entailed all I know was that some were very specialised one in particular a porter arrived with a vacuum flask with hot sand and had to wait to take the blood straight back to the lab(my GP had never even heard of it), I personally do not think I have Sjogrens my condition is Idiopathic what I can make out. Since I have had the skin biopsy done I feel they are pretty sure they have now got the diagnosis right, I am so glad I found this site I now know the right questions to ask my neuro when I see him in a couple of weeks as I am getting more symptoms. What are your symptoms and what meds do you take? Marie

[en bloc]

Since you have dry mouth and neuronopathy, you should not discount Sjogren's with just a Schirmer's test. You could try to inquire about labs drawn for Sjogren's (SSA & SSB). I believe even with the NHS you can get lab results...just not as easily as in the US. The lab where they put the specimen in the sand was likely for cryoglobulin.

My symptoms include dry mouth/eyes, neuropathy pain, and severe autonomic neuropathy (which involves heart rate, BP, temp control, urination, gastroparesis, balance, vascular spasms...and the list goes on). I also have APS (antiphospholipid syndrome) which is a clotting disorder that has caused 3 strokes.

I have a whopper list of meds...6 just for the heart & BP. I also take Plaquenil for the Sjogren's, several GI meds, blood thinners, and minimal pain meds. I did IVIG for 9 years but stopped after a severe case of aseptic meningitis from it. I may try again one day. I also had fairly good results from Cellcept (cancer drug/immune suppressant) for the short time I took it. I did not have luck with antidepressants, as you have. I also tried anti-seizure meds like lyrica and neurontin, but again they didn't work. The damage caused to the dorsal root ganglia from Sjogren's is irreversible and there is no known effective treatment as of now. The objective is to reduce pain, which you apparently have been able to do to some extent.

Your treatment may not be different if you pursued the cause of your diagnosis...other then plaquenil to treat and slow progression of the Sjogren's itself, or use Rituxan.

I am curious about one other thing. What test confirmed the neuronopathy? I am not aware that a skin biopsy can diagnose this by itself as it is used to determine small fiber neuropathy. Is this the test they said confirmed it, or was it a conclusion?

[villier]

Originally Posted by en bloc

Since you have dry mouth and neuronopathy, you should not discount Sjogren's with just a Schirmer's test. You could try to inquire about labs drawn for Sjogren's (SSA & SSB). I believe even with the NHS you can get lab results...just not as easily as in the US. The lab where they put the specimen in the sand was likely for cryoglobulin.

My symptoms include dry mouth/eyes, neuropathy pain, and severe autonomic neuropathy (which involves heart rate, BP, temp control, urination, gastroparesis, balance, vascular spasms...and the list goes on). I also have APS (antiphospholipid syndrome) which is a clotting disorder that has caused 3 strokes.

I have a whopper list of meds...6 just for the heart & BP. I also take Plaquenil for the Sjogren's, several GI meds, blood thinners, and minimal pain meds. I did IVIG for 9 years but stopped after a severe case of aseptic meningitis from it. I may try again one day. I also had fairly good results from Cellcept (cancer drug/immune suppressant) for the short time I took it. I did not have luck with antidepressants, as you have. I also tried anti-seizure meds like lyrica and neurontin, but again they didn't work. The damage caused to the dorsal root ganglia from Sjogren's is irreversible and there is no known effective treatment as of now. The objective is to reduce pain, which you apparently have been able to do to some extent.

Your treatment may not be different if you pursued the cause of your diagnosis...other then plaquenil to treat and slow progression of the Sjogren's itself, or use Rituxan.

I am curious about one other thing. What test confirmed the neuronopathy? I am not aware that a skin biopsy can diagnose this by itself as it is used to determine small fiber neuropathy. Is this the test they said confirmed it, or was it a conclusion?

En gosh you have such a lot to contend with I don't know how you cope with it all, I thought I was bad with the neuropathy, palpatations idiopathic, beta blockers doing the job fine leave alone, multi nodular goitre, monitored for a year doing nothing fine leave alone, for a while though I have been having dizzy spells lately getting more frequent and low and behold palpatations, also, had a few UTI's as well, two weeks ago was shopping passed out and hurt hand taken to hospital, was kept in till next day repeated bloods done heart monitor on nothing, was at hospital today for Ivig spoke to ward doctor.....oh dizzy spells will be due to you fighting off infection thank goodness I see my neuro in two weeks time sorry for rambling on needed to get things off my chest.

You asked what test cofirmed the neuronopathy I surmised it was the skin biopsy as the neuro spoke about the dorsal rooot ganglia and i hadn't a clue at thetime what he was talking abot and because I still don't understand it all yet, I am a bit nervous as I destroyed the letter I got from the professor which mentioned anti-Hu antibodies and cannot remember whether it stated that I showed with or without so now thinking that is why the dx is neuronopathy what are your thoughts?(be totally honest), I would appreciate if you have time if you could give me a few pointers what I should be asking, my problem is I am not a pushy person and a bit shy.

How are things with you at the moment, are you in a lot of pain, how do you cope from day to day, do you have family living with you, do they understand? Hope this finds you in not to much pain..........tc .......Marie

[villier]

Originally Posted by villier

En gosh you have such a lot to contend with I don't know how you cope with it all, I thought I was bad with the neuropathy, palpatations idiopathic, beta blockers doing the job fine leave alone, multi nodular goitre, monitored for a year doing nothing fine leave alone, for a while though I have been having dizzy spells lately getting more frequent and low and behold palpatations, also, had a few UTI's as well, two weeks ago was shopping passed out and hurt hand taken to hospital, was kept in till next day repeated bloods done heart monitor on nothing, was at hospital today for Ivig spoke to ward doctor.....oh dizzy spells will be due to you fighting off infection thank goodness I see my neuro in two weeks time sorry for rambling on needed to get things off my chest.

You asked what test cofirmed the neuronopathy I surmised it was the skin biopsy as the neuro spoke about the dorsal rooot ganglia and i hadn't a clue at thetime what he was talking abot and because I still don't understand it all yet, I am a bit nervous as I destroyed the letter I got from the professor which mentioned anti-Hu antibodies and cannot remember whether it stated that I showed with or without so now thinking that is why the dx is neuronopathy what are your thoughts?(be totally honest), I would appreciate if you have time if you could give me a few pointers what I should be asking, my problem is I am not a pushy person and a bit shy.

How are things with you at the moment, are you in a lot of pain, how do you cope from day to day, do you have family living with you, do they understand? Hope this finds you in not to much pain..........tc .......Marie

Forgot to add also have had a few bouts of reflux which resultedi in a hoarsenes, doc gave me meds for stomach never had indigestion in my life.

[en bloc]

First, it sounds like you could use a good cardiologist to isolate the cause of the palpitations. Keep in mind, it's easier for a doctor to attach the label of idiopathic vs take time to find the cause. If you have any autonomic dysfunction (which can be common with certain types of neuropathy--ie, autoimmune), then palpitations (AND accompanied dizziness) are likely a result of that...and in most cases easily treatable with medicine. It's a matter of proper testing to identify the arrhythmia. This goes way beyond a simple heart monitor.

Don't buy the "dizziness is from infection" unless you have a raging infection and are severely dehydrated or something. You need a doctor to start investigating the cause of these things.

BTW, the reflux can also be related to some delayed emptying...another autonomic dysfunction. Is the medicine he gave you helping?

It really sounds like your doctor drew a conclusion about the neuronopathy based upon your history of PN and then the addition of SFN (dx from the skin biopsy). The anti-Hu antibodies woudl also play a role. And it sounds like his conclusion may be/probably entirely correct. Just from reading your posts, I think (guess) you may also have some autonomic dysfunction going on as well. If I were you, I'd ask about some testing for the palpitations, dizziness, GI, etc. This would include a tilt table, 24-48 hr holter, 30 day event recorder (all of which needs to be done by a cardiologist). If you have any early fullness when eating or nausea/discomfort after eating, I'd add a GI empty test to check for delayed emptying. And knowing how common this type of neuronopathy is with Sjogren's, I'd get them to follow-up with more testing...maybe even a lip biopsy to confirm or deny the condition.

As for me, my pain, coping, etc. It's been a struggle recently, to be honest. I have continued progression and what is like a game of medical mgmt to keep up with it. And of course, pain can be very draining. But that said, I drive on because attitude and outlook is half the battle. I do have major surgery next week to replace my pacemaker, so that will likely set me back in other ways as well...as things like surgery can cause a flare of symptoms with autoimmune conditions. I am lucky though that my husband and son (a Marine who happens to be home right now on leave) are both very supportive.

Other then my comments above about requesting testing, you should just tell your doctor that you want to look at the "whole" picture and how your neuropathy can/will effect other systems (some that it already appears to be doing) and that you want to be pro-active about mgmt to stay on top of your condition as best possible. Your interest expressed in this way might encourage him to agree to be more thorough.

[glenntaj]

--as a mediating cause of neuronopathy are usually a sign of an occult cancer; this is considered a paraneoplastic syndrome:

http://neuromuscular.wustl.edu/antibody/sneuron.html#hu

If you did show up with Anti-Hu antibodies there should be an immediate search for a primary tumor. But this would likely have caused the doctor to get in touch immediately. I would suspect that means you're negative for these, but it wouldn't hurt to check. (You do have to be your own advocate. And get copies of all test results.)

[villier]

Originally Posted by en bloc

First, it sounds like you could use a good cardiologist to isolate the cause of the palpitations. Keep in mind, it's easier for a doctor to attach the label of idiopathic vs take time to find the cause. If you have any autonomic dysfunction (which can be common with certain types of neuropathy--ie, autoimmune), then palpitations (AND accompanied dizziness) are likely a result of that...and in most cases easily treatable with medicine. It's a matter of proper testing to identify the arrhythmia. This goes way beyond a simple heart monitor.

Don't buy the "dizziness is from infection" unless you have a raging infection and are severely dehydrated or something. You need a doctor to start investigating the cause of these things.

BTW, the reflux can also be related to some delayed emptying...another autonomic dysfunction. Is the medicine he gave you helping?

It really sounds like your doctor drew a conclusion about the neuronopathy based upon your history of PN and then the addition of SFN (dx from the skin biopsy). The anti-Hu antibodies woudl also play a role. And it sounds like his conclusion may be/probably entirely correct. Just from reading your posts, I think (guess) you may also have some autonomic dysfunction going on as well. If I were you, I'd ask about some testing for the palpitations, dizziness, GI, etc. This would include a tilt table, 24-48 hr holter, 30 day event recorder (all of which needs to be done by a cardiologist). If you have any early fullness when eating or nausea/discomfort after eating, I'd add a GI empty test to check for delayed emptying. And knowing how common this type of neuronopathy is with Sjogren's, I'd get them to follow-up with more testing...maybe even a lip biopsy to confirm or deny the condition.

As for me, my pain, coping, etc. It's been a struggle recently, to be honest. I have continued progression and what is like a game of medical mgmt to keep up with it. And of course, pain can be very draining. But that said, I drive on because attitude and outlook is half the battle. I do have major surgery next week to replace my pacemaker, so that will likely set me back in other ways as well...as things like surgery can cause a flare of symptoms with autoimmune conditions. I am lucky though that my husband and son (a Marine who happens to be home right now on leave) are both very supportive.

Other then my comments above about requesting testing, you should just tell your doctor that you want to look at the "whole" picture and how your neuropathy can/will effect other systems (some that it already appears to be doing) and that you want to be pro-active about mgmt to stay on top of your condition as best possible. Your interest expressed in this way might encourage him to agree to be more thorough.

Hi en thanks for all the advice I appreciate it so much, I am at my brothers for a few days at the moment and wont be back till Tuesday, I wish you well for next week and hope everything goes well for you, hopefully there will be no flare ups and you will recover quickly, I am really pleased you have a very supportive husband and son at home, I will be thinking of you and keeping my fingers crossed that everything goes well for you keep me posted when you feel up to it.......tc...........Marie

[villier]

Originally Posted by glenntaj

--as a mediating cause of neuronopathy are usually a sign of an occult cancer; this is considered a paraneoplastic syndrome:

http://neuromuscular.wustl.edu/antibody/sneuron.html#hu

If you did show up with Anti-Hu antibodies there should be an immediate search for a primary tumor. But this would likely have caused the doctor to get in touch immediately. I would suspect that means you're negative for these, but it wouldn't hurt to check. (You do have to be your own advocate. And get copies of all test results.)

Hi Glen thanks for the info I have actually came across paraneoplastic syndrome which I admit when I read about anti-Hu antibodies I did panic a bit as I remembered there was something about that in the letter but cannot remember what, I am sure now that if I had been positive they would have had me checked out by now, I really need to grow a backbone and stop being so soft thanks again...............tc...........Marie

[Liz01]

Hi

I am new to this forum and i have exactly the same diagnosis. It is a rare condition - Can I email you direct to discuss further.

Thanks

Originally Posted by villier

Hi all,
New to this, first post, I am a 57 year old woman who lives in Scotland. I was diagnosed last year with small fibre sensory neuronopathy after being diagnosed 8 years ago with peripheral neuropathy, I cannot find much information on this condition as it is very rare, it has worsened over the past couple of years which promted my neurologist to send me to see a professor in London who did some tests and came up with the diagnosis, I would be very grateful if anyone has any information they can give me as I do not know if my condition will get any worse. Thank you for taking the time to read this.