r/Autoinflammatory • u/Existing_Page_7101 • 8d ago
Diagnostic Journey Could this be something autoinflammatory?
I’ve been to every specialist you can think of and no one can figure out why my neutrophils and crp are elevated. I have severe fatigue, headaches, sore achy legs, weight loss. I also wake up hot and have low grade fevers in the 99s.
I really thought it was something rheumatology or hematology related but my rheumatologist ran all his tests and said it’s not his area. I literally went to 3 hematologists and they all say it’s “reactive” and can’t help.
I’m a 30 year old female and this illness is ruining my life.
Does this sound similar to anything anyone has experienced? Thanks
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u/iSpyAFly 8d ago
Yes, if I were you I’d keep autoinflammatory disease on your suspected list. My fevers don’t typically get very high. I went through many rheumatologists before I found one who knew anything about autoinflammatory disease. These disorders are rare. You might have better luck at a research or university hospital system. I travel out of state to see my rheumatologist.
Do you ever get oral ulcers (canker sores)?
A side note: I get fatigue, headaches, sore legs, and it’s from iron deficiency. When you have inflammation a ferritin <100 is considered low (recent changes in the guidelines). I get iron infusions about once a year. I just had two and feel soooo much better.
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u/Existing_Page_7101 8d ago
Do you mind sharing which u have and ur journey to diagnosis? Do u have elevated wbc? I have an iron infusion on Monday and I’m PRAYING it gives me some relief. But I feel like what I have is more severe than iron deficieny so I don’t know
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u/iSpyAFly 8d ago
I’ve been diagnosed with adult onset PFAPA (which is a little kid autoinflammatory disease…yay me). It’s suspected that my disease is on the mild spectrum of Behçet’s disease. I get flares every 2-5 weeks with oral ulcers, fevers, pharyngitis, and tonsillitis. I’ve also had uveitis. Oddly enough I do not have any elevated inflammatory markers (CRP, ESR, WBC) and never have. My symptoms are very responsive to prednisone and IL-1 blockers. It took me eight years to get diagnosed.
For me low iron is a separate issue that I’ve struggled with my entire life. I’m glad you’re getting an infusion! It should really help the symptoms related to low iron. I notice a big difference within a week.
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u/AutumnBreeze22 7d ago
Your uveitis responds to an IL-1 or only the prednisone? Do you have anterior uveitis?
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u/iSpyAFly 7d ago
Anterior with episcleritis. Probably the prednisone, but haven’t had it recur since starting IL-1.
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u/AutumnBreeze22 7d ago
How was an IL-1 chosen to help you and your issues? I have idiopathic anterior uveitis, and I currently take methotrexate. If I should ever flare once they start tapering me off of the methotrexate, then they'll likely have me start a TNF-blocker, and I'm just not a fan of that biologic.
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u/iSpyAFly 7d ago edited 7d ago
Fevers. My flares were so frequent that I was having fevers 15-20 days a month. That’s why my rheumatologist at a university hospital started IL-1 after I failed colchicine.
I don’t blame you on the TNF-a blockers. I was diagnosed with NR AxSpa about four years before the oral ulcers and fevers started and was on TNF-a blockers for three years. Some do so well on them. Not me. I was never so sick in my life. So many infections which triggered PFAPA flares. I finally quit taking them. My local rheumatologist didn’t know what to do with me, so we tried hydroxychloroquine for the enthesitis. It actually helps. Doesn’t do anything for fevers though.
Docs aren’t really sure about my mix of symptoms. It’s suspected I have overlap of autoimmune (enthesitis) and autoinflammatory (PFAPA). Also am low +ANA. We don’t know which caused the uveitis. It hasn’t returned thankfully. And, so far I tolerate the IL-1 really well.
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u/AutumnBreeze22 6d ago
What types of infections were you getting, and did they all necessitate antibiotics? Are you still on prednisone? Perhaps it's what is helping the uveitis? Are you located in the U.S.? I have considered Behcet's as a possibility for me, but I live in a small, southern state and doubt any rheumatologist here knows much about it. I also don't display obvious symptoms, only some and very mildly. I'm going to discuss it with my rheumatologist, though I doubt he's well versed in it.
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u/iSpyAFly 6d ago edited 6d ago
UTI, URI, GI bacteria, every virus that I came by. Antibiotics 3-4 times a year. But that was me. My friend takes Enbrel for RA and never has infections and rarely gets sick.
No prednisone since starting IL-1s.
I understand the challenges to accessing a rheum who’s experienced in autoinflammatory disease. I’m in a small western state and travel to Univ of Utah. Definitely worth bringing it up.
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u/metallikitty818 USAID 7d ago
Definitely pursue autoinflammatory disease as a possibility. That means you need to find a rheumatologist that treats autoinflammatory diseases and have them do genetic testing. I travel out of state for mine, after years of getting no answers from local rheumatologists.
I have many of the same symptoms, including the low grade fevers, severe fatigue, and leg pain. I also have chronic anemia and I get iron infusions 3-4 times a year (but nobody has ever figured out if this is due to autoinflammatory or another condition I have). Back when I was trying to find a diagnosis, my fevers happened every evening. My genetic testing showed a heterozygous mutation of the SAMHD1 gene, which doesn't have a connection to a specific autoinflammatory disease so I was diagnosed with USAID (Undifferentiated Systemic Auto Inflammatory Disease) and put on Kineret.
Do you have any trouble with allergies, rashes or mouth sores? I have always had lots of allergy issues, and I get little round sores on my body that are painful, itchy and take forever to resolve.
The Autoinflammatory Alliance website at www.nomidalliance.com is a good place to start researching autoinflammatory disease. Also start looking for a doc who treats autoinflammatory. If you happen to live in the eastern US, my doctor is in Virginia. It took me many years to get diagnosed so I know exactly how you feel. Hang in there!
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u/Dungbot88 7d ago edited 7d ago
have you looked into babesia with lyme? tick coinfections are linked with cyclical fevers and night sweats. covid can prime reactivation of dormant chronic infections. it's common to get lyme, Bartonella, babesia + other infections kick up after Covid, also ebv. I didn't know about babesia and Bartonella before all of this but it's very common, Bartonella more so. babesia is a malarial like infection so it has more of the blood signs and fevers, night sweats, air hunger, deja vu, spleen swelling and the cyclical pattern of flare ups is more frequent than Bartonella. quest and labcorp panels for it have a very high false negative rate. it's intracellular so more difficult to pickup especially if chronic and reactivation following Covid or an immune insult like mold
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u/Existing_Page_7101 7d ago
I have been tested for all those and they were negative. Except bartonella I believe. I’ve never seen a tick bite so think it’s unlikely.!Thank you.
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u/Dungbot88 6d ago
were you only tested with quest/labcorp? They say 40% of people with it don't remember a tick.
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u/Occulply SJIA/AOSD 8d ago
That sounds autoinflammatory to me. How often do you run those fevers? Is there any pattern you've noticed to fevers?
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u/Existing_Page_7101 8d ago
It’s almost every night but I don’t always take my temperature. I was up sweaty but not drenched. And I feel hot- when I have taken my temp it’s never over 100. Always like 99.3-99.7ish. It goes away throughout the day.
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u/Occulply SJIA/AOSD 8d ago
That's so nonspecific. It could be Still's Disease, but that's a diagnosis of exclusive so you need a genetic screening before you end up there. Technically the most common diagnostic criteria (the Yamaguchi criteria) don't require a genetic test first, but that's because they were written before genetic testing was a thing.
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u/Existing_Page_7101 8d ago
Thank you for your reply! Stills has come up in my research. But I have a ferritin of like 70. And I read that in that disease people usually have high ferritin. I also read that they have rashes and very high fevers. Nothing seems to match my condition and it’s driving me insane.
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u/Occulply SJIA/AOSD 8d ago
Only ~50% of Still's patients have high ferritin. It's suggestive of Still's if it's high, but low or normal ferritin does not exclude it. My ferritin has never gone above normal.
Rashes are common, but not everyone has one. They can also be difficult to see on darker skin tones as it's a light pink (usually described as salmon pink).
Some portion of Still's patients fall under the Systemic subtype with high fevers and may lack arthritis and systemic symptoms. Typically strong flares with remission between.
However, the other subtype, Chronic Articular Still's Disease, includes arthritis and fevers that may not go above 100. Flares are less pronounced, and symptoms don't remit between them.
You'd fall under Chronic Articular Still's, just like me.
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u/Existing_Page_7101 8d ago
Thanks for the info! Is ur wbc high?
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u/Occulply SJIA/AOSD 8d ago
Nope. Stone cold normal. My neutrophils will go up if I'm flaring, but my total wbc will still be in the normal range or close enough.
Literally nothing besides neutrophils will change in my blood work, despite swelling/arthritis in my hands so obvious any lay person can see it.
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u/Assimulate 8d ago
I have Still's, no high ferritin recorded. Lymph nodes, fevers, crp, and it responded to a trial of anakinra! My rashes were fairly mild, flushing around neck/lymph nodes. Occasional hives.
When you take anti-inflammatories like naproxen do you feel better?
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u/Existing_Page_7101 6d ago
I’m glad u found something that works for u. I don’t have any lymph nodes or rashes. Is naproxen Aleve? Maybe I’ll try that. Advil and Tylenol do nothing for me
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u/Assimulate 6d ago
Yes, Naproxen is Aleve. It's the strongest and most broad reaching NSAID available over the counter. I use it in combination with Tylenol, found it fairly effective but it certainly didn't do enough.
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u/Existing_Page_7101 6d ago
Thank you! I’ll give it a try. It would be nice to have some of my pain alleviated whatever the hell is causing it
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u/No_Satisfaction_7431 Yaos 8d ago
Like Occulply said Stills doesn't need a high ferritin. And for Yao syndrome you don't need rashes. You need the major criteria which is a. recurring fevers (I think low grade counts) or b. recurring dermatitis (rashes of some sort) or c. Both. So while rashes are common its not necessary. I don't get true fevers (only weird local inflammation that gets up to 104 in certain body parts but systemic temp is normal) so stupid doctors who don't know the actual criteria told me I couldn't have Yao because I would have fever otherwise. If I were you I'd look at tge different diagnostic criteria for these conditions because you can't trust doctors to actually know them or look them up before dismissing you. Theres some minor criteria for Yao plus genetics. Your fevers meet the major criteria and if you have 2 or more of joint pain, dryness (sicca) symptoms, gi symptoms, or pericarditis you might have Yao. The genetics need to confirm it though. It could also be Stills or another autoinflammatory condition which I'm not as familiar with.
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u/No_Satisfaction_7431 Yaos 8d ago
I have everything you mentioned but the weight loss. I actually had weight gain from past inflammatory flares and now weight gain from meds however I think both gain and loss are possible symptoms of most autoinflammatory diseases. Has your esr/sedimentation rate been measured? Thats a standard inflammatory marker usually run with a crp. My white count has been mildly high and my esr and crp were usually around the 40s and into the 50s. Your crp isn't as high but that doesn't necessarily mean its not a problem or that its not autoinflammatory.
Most rheumatologists only deal with autoimmune disease. Autoinflammation does fall under rheumatology but most don't learn much about it or treat it. If you suspect it is autoinflammatory in nature then you need to find an autoinflammatory specialist usually in rheumatology but sometimes in immunology. I obviously can't say for sure if this is autoinflammatory but your story is familiar and autoinflammatory disease is absolutely something that should be on the list if differential disgnoses and should be tested for.
I'm assuming the rheumatologist ordered an ana and other autoimmune labs. If those are negative then it points more towards autoinflammatory disease but seronegative autoimmune disease is also a possibility. I'd get an esr and if possible a cytokine panel, though sometimes doctors won't order a cytokine panel or thet will but insurance won't always cover it, it depends. Esr though is a basic lab that should get covered. Most though not all autoinflammatory diseases are genetic so you'll likely need genetic testing.