Aa
auto immune diagnosis
I am awaiting a diagnosis from my rheumatologist, but the more I tried to find answers, the more confused I am. So far, here are my results:
* sceritis (left eye)
* ANA positive - 1:640
* sacroilitis
* ANCA positive - atypical
* negative for all infectious diseases
* negative for HLA-B27
* negative for RFactor
Pains in lower back, sinuses, knees, wrists. I wake with knee, lower back and eye pain. I'm just ready to start feeling better. My rheumy said spondyloarthropy, but also said he is thinking about referrring me to ENT for sinus biopsy.
Any ideas?
* sceritis (left eye)
* ANA positive - 1:640
* sacroilitis
* ANCA positive - atypical
* negative for all infectious diseases
* negative for HLA-B27
* negative for RFactor
Pains in lower back, sinuses, knees, wrists. I wake with knee, lower back and eye pain. I'm just ready to start feeling better. My rheumy said spondyloarthropy, but also said he is thinking about referrring me to ENT for sinus biopsy.
Any ideas?
Hope you don't mind if I jump in with a couple of questions. If I need to create a new post let me know.
Curious does this MTHFR mutation mimic AI or is it that it can co-exist with AI?
Do the increased histamines have to do with allergies? What effects does this mutation have on your body? Could it raise your ANA absent any other positive result? What is the test called for this?
xx Jules
Curious does this MTHFR mutation mimic AI or is it that it can co-exist with AI?
Do the increased histamines have to do with allergies? What effects does this mutation have on your body? Could it raise your ANA absent any other positive result? What is the test called for this?
xx Jules
Please consider the methylated form of folate instead of your current folic acid and disregard the rheumies opinion about your HLA-B27.
Homozygosity ( 2 copies inherited -one from each parent ) does not influence
AS manifestation-so in other words, if you're HLA-B27 heterozygous, inheriting this from one parent only, puts you at the same risk level.
The sinus pain could be from the scleritis, or it could be from elevated histamine levels, in relation to SAMe deficiency (re: undermethylation).
Homozygosity ( 2 copies inherited -one from each parent ) does not influence
AS manifestation-so in other words, if you're HLA-B27 heterozygous, inheriting this from one parent only, puts you at the same risk level.
The sinus pain could be from the scleritis, or it could be from elevated histamine levels, in relation to SAMe deficiency (re: undermethylation).
My rheumatologist said that I have unspecified spondylarthropy. But he has ordered an MRI of my pelvis to try to rule out or confirm Anklosing Spondylarthropy.
I am half Kenyan and the other half is a mixture of Norweigian, German and Italian - his explanation of why I may not be HLA-B27 positive. My ENT thinks that the sinus pain could be referred pain from my scleritis.
I am currently taking Indomethacin, methotrexate, Predisone and Folic acid. Just started the last three, but I am hoping for some pain relief so that I can actually get some real sleep at night.
I am half Kenyan and the other half is a mixture of Norweigian, German and Italian - his explanation of why I may not be HLA-B27 positive. My ENT thinks that the sinus pain could be referred pain from my scleritis.
I am currently taking Indomethacin, methotrexate, Predisone and Folic acid. Just started the last three, but I am hoping for some pain relief so that I can actually get some real sleep at night.
Sacroiliitis is an inflammation of the sacroiliac joints which could be linked
to arthritic conditions.
On the other hand scleritis is a more serious inflammatory condition of the eye & it could be linked to RA or it could be an early symptom of connective tissue disease, but your lab findings do not constitute a diagnosis.
The gene is MTHFR (methylenetetrahydrofolate) and a number of people have a MTHFR mutation (defect) which affects methylation processes, which in turn results in numerous impaired biochemical interactions in the body.
This is a very technical subject, so I won't go into any great analysis, but if you have such a defect, it could explain a lot of things and then you could act on this to correct some imbalances caused by this, where possible.
Take care
Niko
to arthritic conditions.
On the other hand scleritis is a more serious inflammatory condition of the eye & it could be linked to RA or it could be an early symptom of connective tissue disease, but your lab findings do not constitute a diagnosis.
The gene is MTHFR (methylenetetrahydrofolate) and a number of people have a MTHFR mutation (defect) which affects methylation processes, which in turn results in numerous impaired biochemical interactions in the body.
This is a very technical subject, so I won't go into any great analysis, but if you have such a defect, it could explain a lot of things and then you could act on this to correct some imbalances caused by this, where possible.
Take care
Niko
Thank you for your advice. I have no idea whay MTWHF gene is, so I will bring that up to my dr. Do you know where sceritis and my sacroilitis fits into the equation? Is that also a symptom of seronegative RA? Or is that another autoimmune disease?
HI Sarah.
It could be a case of seronegative Rheumatoid arthritis.
About 75% of RA patients test positive for it.
And a positive RA may not mean necessarily they have RA
So in other words, rheumatoid factor may be positive in some healthy people and negative in people who actually have RA.
Other possibilities are early signs of SLE (lupus) or Sjogren's, however, their diagnosis is rather complex and it may take time to dx or rule out.
I would also ask for MTHFR gene testing and the sign for this suspicion is the sinus issues in addition to your other symptoms.
Most doctors do not bother with it, or are not familiar with it, but about up
to 40% have a MTHFR mutation, which affects them in varying degrees and ways. There're over 30 different variants of this mutation.
One easy way to get an indication if you have such a mutation is to do a trial with SAMe (pronounce like Sammy) to see if it helps with your sinuses
and other symptoms.
If it helps within a couple weeks, there's a great likelihood, you have it!
Should you test positive for this mutation, your suspected condition could
go into remission following a specific supplementation protocol.
You can't change your genes, but you can do other things to compensate.
Let me know if you need details, however, my suggestions are not intended to replace medical advice.
Best wishes
Niko
It could be a case of seronegative Rheumatoid arthritis.
About 75% of RA patients test positive for it.
And a positive RA may not mean necessarily they have RA
So in other words, rheumatoid factor may be positive in some healthy people and negative in people who actually have RA.
Other possibilities are early signs of SLE (lupus) or Sjogren's, however, their diagnosis is rather complex and it may take time to dx or rule out.
I would also ask for MTHFR gene testing and the sign for this suspicion is the sinus issues in addition to your other symptoms.
Most doctors do not bother with it, or are not familiar with it, but about up
to 40% have a MTHFR mutation, which affects them in varying degrees and ways. There're over 30 different variants of this mutation.
One easy way to get an indication if you have such a mutation is to do a trial with SAMe (pronounce like Sammy) to see if it helps with your sinuses
and other symptoms.
If it helps within a couple weeks, there's a great likelihood, you have it!
Should you test positive for this mutation, your suspected condition could
go into remission following a specific supplementation protocol.
You can't change your genes, but you can do other things to compensate.
Let me know if you need details, however, my suggestions are not intended to replace medical advice.
Best wishes
Niko
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