Small fiber neuropathy

kiwi33 · 05-02-2017, 05:14 AM

Madmax80, I have been thinking a bit about your genetic issues.

As far as your familial dysautonomia is concerned, this, coupled with the fact that genetic testing has shown that you have the IVS20DS genotype means that both your copies of the IKBKAP gene (on chromosome 9) have this mutant form of the gene. This is because familial dysautonomia has what is called an autosomal recessive pattern.

I do not know if your wife has had similar testing for the IVS20DS genotype but if she has it, (in the absence of frank symptoms), that means it is found on only one of her copies of chromosome 9. If so, that means that all of your children have a 50% chance of developing familial dysautonomia.

Acrokeratosis verruciformis is very rare and is not correlated with people from any given ethnic background. You could get tested for mutations in the ATP2A2 gene if you want to.

I appreciate that there are many hard concepts in genetics and molecular cell biology here. If you and your wife are not very familiar with these hard concepts then it might be an idea if you saw a professionally-trained genetic counsellor.

S/he should be able to talk you both through the implications of your genetics in ways that you can both understand.

madmax80 · 05-03-2017, 05:15 AM

Quote:

Originally Posted by mrsD

You can search just as well as I can. I have no idea what is in the area you live in. However your heritage where you are suggests to me there must be genetic specialists where you live.

Ask to see what is in the test you are getting. Will it be a full genetic screen? Or only a partial for neuropathy? I think you should get a full test like janieg got for her issues.

Some doctors only test for specific problems and do not give a full workup. Did you check out her new thread yet?

It is sometimes difficult to shift from patient to being your own advocate. With time you'll learn much more if you are less passive with the doctors and do some research on your own.
Also make sure you get your B12 tested to see if that is seriously low. No supplements for several days before the test.

But for now, try not to overdo physical exercise, and eat a varied diet, avoid too much sugar and carbs. Look up each coded mutation and see how it impacts your metabolism. I found alot in just a few minutes. The malabsorption error you have suggests what nutrients you should concentrate on.
I would avoid the lipoic acid supplement as it takes up the multivitamin transporter, and prevents other crucial nutrients from getting to your tissues.

All you can do in the end is support your tissues with non-stressful activity, good food, good rest.

Thanks mrsD.
I should be doing an Exome sequencing. Is this the right direction to try and find everything?

Because of the diarrhea i have been having for the lat several months i have started today a hipo-allergenic diet based on brown rice, vegetables and fruits. I also need to treat the blastocystis hominis parasite i have in my stool using antibiotics, hopefully to start next week after more stool tests.
My blood B12 levels are at 525 pmo/L after 2 days i didnt take my supplement.
I currently take a B-Complex, Alpha lipoic acid 600mg(should go to 1200mg in couple days, and a week after go to 1800mg daily) and probiotics.

Until last week when I met my neurologist and he let me know it's likely a small fiber neuropathy, I used to go to the gym 3-4 times a week, I'm running, I play professional table tennis. Now i'm afraid, although I dont think I should be.
I'm also having tiny fasiculations all over the last couple of days. I used to have those in the past, usually one area at a time and then it will go. I guess from the current stress i'm having, this is all over.

I have read that Phosphatidylserine might help with IKBKAP gene mutation symptoms. I'll consult with my doctor.

madmax80 · 05-03-2017, 05:27 AM

Quote:

Originally Posted by kiwi33

Madmax80, I have been thinking a bit about your genetic issues.

As far as your familial dysautonomia is concerned, this, coupled with the fact that genetic testing has shown that you have the IVS20DS genotype means that both your copies of the IKBKAP gene (on chromosome 9) have this mutant form of the gene. This is because familial dysautonomia has what is called an autosomal recessive pattern.

I do not know if your wife has had similar testing for the IVS20DS genotype but if she has it, (in the absence of frank symptoms), that means it is found on only one of her copies of chromosome 9. If so, that means that all of your children have a 50% chance of developing familial dysautonomia.

Acrokeratosis verruciformis is very rare and is not correlated with people from any given ethnic background. You could get tested for mutations in the ATP2A2 gene if you want to.

I appreciate that there are many hard concepts in genetics and molecular cell biology here. If you and your wife are not very familiar with these hard concepts then it might be an idea if you saw a professionally-trained genetic counsellor.

S/he should be able to talk you both through the implications of your genetics in ways that you can both understand.

Thanks kiwi for thinking about the data i provided.

I do not have familial dysautonmia, just to be clear. just the mutation in the gene. My wife doesnt have this mutation, so we should be safe.

The acrokeratosis verruciformis diagnosis is mine and not the doctor's, yet. This is my assumption due to the fact i see those papules on my father's and sister's dorsals also. I should see a dermatologist with genetic diseases interest by the end of the month.

cooda · 05-04-2017, 12:08 AM

I also have a posetive rnp (1.7) and negative ana and have idiopathic small fiber neuropathy. So far it is the only abnormal tesr result i have. Dr.s dismiss it but i can't help but wonder if it has something to do with my neuropathy being it's the only abnormal marker.

kiwi33 · 05-04-2017, 03:11 AM

Elevated RNP levels can indicate a range of connective tissue diseases but it does not seem to be associated with neuropathy. Generally a RNP test is not useful in people without elevated ANA (antinuclear antibody) levels.

There is more on this here RNP - Clinical: RNP Antibodies, IgG, Serum.

madmax80 · 05-04-2017, 04:35 AM

Exactly. I'm hoping mine will be negative as well.

stillHoping · 05-07-2017, 08:53 AM

Quote:

Originally Posted by madmax80

Exactly. I'm hoping mine will be negative as well.

Hi, Have you seen the private message I sent you?

madmax80 · 05-09-2017, 08:34 AM

Quote:

Originally Posted by kiwi33

Elevated RNP levels can indicate a range of connective tissue diseases but it does not seem to be associated with neuropathy. Generally a RNP test is not useful in people without elevated ANA (antinuclear antibody) levels.

There is more on this here. RNP - Clinical: RNP Antibodies, IgG, Serum.

ANA titer and pattern returned negative.
Not sure why my general doctor sent these tests but LAMBDA returned low as 2.41 on the scale of 6-26, KAPA returned normal.

blood was taken for exome sequencing and they will check sodium channels and the ATP2A2 mutation also.

Started anotibiotics for the blastocystis parasite, hoping that will help with my on going diarrhea.

kiwi33 · 05-09-2017, 10:38 AM

"Not sure why my general doctor sent these tests but LAMBDA returned low as 2.41 on the scale of 6-26, KAPA returned normal. "

Madmax80, lambda and kappa light chains occur in two contexts. All antibody molecules contain two identical light chains (either lambda or kappa) together with two identical heavy chains, which come in five different classes. As far as I know, variations in the proportions of antibodies with lambda or kappa light chains have no clinical significance.

Both lambda and kappa light chains can also occur free (not as part of antibody molecules). Elevated levels of either can indicate a range of health problems.

I doubt that the fact that your free lambda level is low but free kappa is normal is a matter of concern.

The information here might help you to discuss this with your general doctor Serum free light chain assays not total light chain assays are the standard of care to assess Monoclonal Gammopathies.

mrsD · 05-09-2017, 10:43 AM

Quote:

Originally Posted by madmax80

ANA titer and pattern returned negative.
Not sure why my general doctor sent these tests but LAMBDA returned low as 2.41 on the scale of 6-26, KAPA returned normal.

blood was taken for exome sequencing and they will check sodium channels and the ATP2A2 mutation also.

Started anotibiotics for the blastocystis parasite, hoping that will help with my on going diarrhea.

What I am finding about blastocytis is that it does not require treatment. If you are given metronidazole or Tindmax for it be advised that these two antibiotics cause PN.

More at this link:
Blastocystis hominis infection Treatment - Mayo Clinic

I suggest you read the whole site on this subject as well as this page.

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