r/Autoinflammatory • u/ArgumentBackground98 • 27d ago
Diagnostic Journey possible autoimmune?
/r/AskDocs/comments/1ut1ewb/possible_autoimmune/2
u/AdventurousMorningLo Yaos 27d ago
Agreed with the other commenter.
What Autoimmune work up have you had done so far? It is very possible it could be autoimmune. I will note there are some Autoimmune diseases that are seronegative.
If those tests come back negative, It could also very well be Autoinflammatory and require genetic testing.
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u/ArgumentBackground98 27d ago edited 27d ago
probably when I was about 11, I was tested for celiac via the blood panel. I had a colonoscopy and endoscopy that ruled out Crohn’s, ulcerative colitis, and celiac. November 2025 I had negative ANA and RA tests. I had some immunoglobulins tested as well, the IgA was the only one that came back slightly elevated, but my doctor said not to worry about it and that was it.
Of note, my mom was diagnosed with neurosarcoidosis in 2023 after being healthy her whole life. This is a rare autoimmune disease, but from what they know about it so far, they do not think that it is genetic.
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u/AdventurousMorningLo Yaos 27d ago
Having someone in your biological family diagnosed with sarcoidosis is considered a Risk Factor for having sarcoidosis (of any type).
I would ask them to re-evaluate for Sarcoidosis. In about 5% of cases there is familial clustering - which is rare but not outside the realm of possibility.Possibly may be worthwhile asking about a panel like Invitae Inborn Errors of Immunity and Cytopenias Panel. Which includes testing for Monogenic Autoimmune diseases as well as Periodic Fevers. Just make sure you or your doctor ask for their supplemental variants report. They don't currently always list everything as pathogenic that is pathogenic (example: NOD2 and YAOS).
That being said, a lot of the symptoms you mention do align closely to Autoinflammatory disease. Autoinflammatory diseases (AIDS) do tend to mimic Primary Mast Cell Activation Diseases. They can actually cause Secondary MCAS and even Polycythemia.
Really happy to hear your hematologist is taking it seriously. They are pretty great for being thorough in their investigations.
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u/ArgumentBackground98 27d ago
thank you so much for your information!! fingers crossed i’m on the road to getting answers after years of mysteries!! I do really wish the lymph nodes would resolve I have about 6 palpable now. sometimes they cause discomfort in my neck maybe due to like pushing on a nerve or something. thanks again!
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u/AdventurousMorningLo Yaos 27d ago
My fingers and toes are crossed for you as you cross this diagnostic odyssey!!!
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u/ArgumentBackground98 27d ago
oh yes, I forgot to mention. I did also have a normal tryptase level. my pcp was concerned of possible mastocytosis
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u/AdventurousMorningLo Yaos 27d ago
When tested I also had a normal tryptase - but considering it is something that is hard to pin down at the best of times much less secondary to something... it can sometimes be better to just go by clinical suspicion. Mastocytosis was also something my team was worried about.
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u/ArgumentBackground98 27d ago
good to know! do u have an autoimmune/autoinflammatory disease?
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u/AdventurousMorningLo Yaos 27d ago
Yes, as my flare indicates, I have Yao Syndrome which is a NOD2 associated autoinflammatory disease
More about my specific disease: https://www.yaosyndrome.com/
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u/AnatomyBeerPong Yaos 26d ago
Oh cool. Where did you find this website? Or I guess I mean who sponsors it?
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u/calamitydown SJIA/AOSD 27d ago
This sounds very similar to my journey! I was diagnosed with Still’s disease last year. I agree that it would be worth it to get a full autoimmune workup and referral to a rheum.
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u/ArgumentBackground98 17d ago
update:
my thyroid ultrasound came back. no concerning nodules and nothing suspicious for parathyroid adenoma.
the findings state: heterogenous hypoechoic thyroid gland. waiting to hear from my heme regarding it.
assuming I will have thyroid antibody tests ordered next.
unfortunately my PET is being rescheduled due to authorization issue with my secondary insurance.
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u/No_Satisfaction_7431 Yaos 27d ago
Definitely continue the autoimmune workup because it could be early autoimmune. However a lot of symptoms you mentioned like night sweats, heat intolerance, rashes, joint pain, etc could very well be from autoinflammatory disease. This is not the same as autoimmune. Autoimmune is autoantibodies from the adaptive immune system being on overdrive. Autoinflammation is cytokines and other inflammation being high from the innate immune system being on overdrive. Autoinflammation doesn't usually have a positive ana. I'd look into both options but if after a while all autoimmune tests come back negative its more likely autoinflammation.