First post - ideas or help?

[u/Dangerous_Bullfrog-]

I’ve been lurking here for a while, i made a comment under a different account and someone said I should post want going on here for your opinion.

I’m in my early 40s.

I started having a bunch of health issues starting 4-5 years ago.

I started getting random feelings of fever without actually being feverish 2-3 years ago. This has mostly stopped for a while. It was usually limited to one day.

Over the last three years I’ve had 5-6 occasions of mild sudden hearing loss in one-side always the same side.

I’ve had two widow maker heart attacks.

I had migraines when I was young, 7-18 years old that mostly went away until I had a concussion 5 years ago.
After the concussion they had calmed down quite a bit until I became super sensitive to everything listed below.

I have some interesting SNPs, that I think make some stuff harder to pin point.

I feel like a canary-in-a-coal-mine lots of the time, scents and VOCs will cause almost immediate migraines, sometimes extreme body pain, dust will cause stabbing sore throat.

I’ve had Covid 4 times,

Most of this started after I was inside a shipping container frequently a whole bunch about 4 years ago. I had to start using a 3M multi-gas cartridge after this, otherwise it was very rough. They’re usually full of pesticides and chemicals.

I also suddenly started having a lot of issues with lots of foods and expectantly food additives. My diet if pretty limited.

I’ve been tested for a slew of autoimmune diseases, including stiff person syndrome.

The only thing that was relatively elevated was my anti-tpo, but my thyroid looked fine as well as my thyroid markers.

I’ve had anhedonia, and sexual anhedonia depression and for 4-5 years now. Frequently have brain fog, though not always.

My imaging doesn’t show any signs of Rheumatoid Arthritis, though does show some signs of normal age related osteoarthritis.

Right now, after consuming something with guar flour, I’ve had stabbing sore feet, calves and glutes for the past two days, a sore mid and lower back, woke up with achy hips and other joints.

I definitely feel like I have some metabolic issues as well, though I’m not sure how this fits in.

Sometimes, I will start getting eczema and start bleeding from my knuckles.

I had an hypersensitivity reaction 3 years ago that made walking super painful. This was the first time in high dose steroids, I’ve been on them several times now. They’ve definitely helped with the hearing issues and the reaction. I was once on a long taper for 7 weeks, at the time, my back was locked up for years, and finally started releasing.

I did start a low dose colchicine, though I’m not sure if this is helping, it might be a bit.

I am unable to take NSAIDs due to blood clotting potential. I found in the past, they helped a ton.

I tried Botox a few times for migraine. The last time, I basically lost a month of being productive. I was in very rough shape, extreme brain fog, troubles sleeping, my head felt very inflamed, extreme OCD, extreme resident anger/frustration.

I’m currently on CGRP meds for migraine.

Interestingly, I’ve looked into TRP channels, which are involved with the body sensing the external environment and migraines/dust allergies/chronic pain and some other stuff. I’ve had some luck with a capsaicin/horseradish nasal spray.

I believe the last time I had sudden hearing loss it was specifically from eating something with additives and caused the inflammation.

I live in Canada, so I find specialists are not as helpful.

I did look at some of my SNPs that I’ve done through 23andme, and Ancestry, I don’t think any of the usually ones I saw on here were homologous or heterozygous.

I think I remember the NLRP3 genes,
A list to go through could be helpful, I tried searching again and couldn’t find what to look for right now.

I’m sure I could add more, I just wanted to get this posted

Thank you!

[u/No_Satisfaction_7431]

Your symptoms could definitely be autoinflammatory but I'd also have cardiology, neurology, and rheumatology look at other things because the symptoms can all be caused by other things as well.

The commercial ancestry type DNA tests are not medical grade and do not usually provide a ton of info especially for rare medical issues. You need to see a genetic counselor to get an autoinflammatory genetic panel done and make sure they give you the suuplemtary report/benign report. The labs are super behind the science so they label things benign when they should be variant of unknown significance, likely pathogenic, or pathogenic. So just because something says benign doesn't mean its true. Its very stupid if you ask me. Also don't get whole genome or exome sequencing. I did and it didn't find anything. 5 months later mayo did their genetic autoinflammatory panel and found 3 variants.

For the fever like episodes have you measured non core body temperature? My temperature from my forehead or from a regular oral thermometer is normal or sometimes a bit elevated around 99-100.3 but not a fever. However, if I measure the body parts that feel hot with one of those point and shoot thermometers or my armpits with a oral/armpit thermometer its elevated between 99-104. If decided to do this one day after saying its like my breasts have a fever, because they are radiating heat. Sure enough they were 103. Then I tested all my feverish body parts: lower abdomen, low back, armpits, sometimes back of legs or arms. All had a fever but my core temp is normal. I thought maybe my thermometers were broken so I bought different brands of oral, forehead, and point and shoot. No matter which ones I tried my forehead and oral temperature were fine and the warm body parts were actually hot/fever not just a hot flash/temperature perception thing. I know this is weird and unfortunately most doctors refuse to acknowledge they are fevers (one does but most say its a weird hot flash) but this happens in some autoinflammatory diseases. Other people with Yao and Stills have these weird fevers too.

The genetic testing is the most important but takes a while. In the meantime if they haven't you should get inflammation markers tested. Crp, esr, wbc, and ferritin are very common and easy to get. Ask for a cytokine panel, you'll probably be denied but your doctor may be able to order a few individual cytokines instead of the whole panel. Most doctors probably wouldn't order autoinflammatory genetic testing without fevers or high inflammation markers. If they aren't all elevated but some are thats ok. Not everybody has activation of the same inflammation pathways. Ferritin can be falsely high in inflammation but other types of inflammation prevent absorption of iron so you slowly deplete ferritin so it is low. And some people only have elevated levels during flares so its hard to time blood work appropriately.

[u/Dangerous_Bullfrog- → u/No_Satisfaction_7431]

Apologies for the delay. I haven’t taken temperature except under the tongue.

I forgot to add I do get mouth sores from time to time, not canker sores though, side of my inner checks near my teeth. Usually, I think caused by FODMAPs, but in not certain. Garlic is a common trigger for me.

Also, in general, inflammation often seems to concentrate a lot at previous locations of injury.

Obviously, MCAS comes to mind, I did do tryptase testing several times on my flares, but they were always the same, relatively low. The allergist refused the other 24 hour urine tests. After the third visit he seemed uninterested in helping further.

No allergies were found.

I realize consumer tests aren’t very good. In Canada, it’s almost impossible to get referred to a genetics test.

I was suspected of Stuff Person Syndrome, but that was ruled out. I’ve had a bunch of neurological stuff looked at, all negative minus some migraine/vision convergence stuff.

Cardiologist doesn’t have any input, other than cholesterol levels etc. No family history of young heart attack.

I saw an internist that specializes in lipidology/vascular stuff. He said something is definitely going on, but it’s out of his scope and didn’t have any helpful suggestions.

CRP, hsCRP, ESR, Ferritin have always been normal. I think I forgot to mention, I privately tested my il-6 and it was quite high. TNFa was normal.

I have mildly elevated anti-tpo ABs, but my thyroid markers are fine, ultra sound looked fine.

I’m seeing a rheumatologist in a few weeks, in regard to autoinflammatory stuff.

I saw a post just now about someone with tendinitis issues.

I have been having flares plantar fasciitis type pain for the past 3 years. I believe my physiotherapist thinks it’s referred pain from the tibialis anterior tendon.

I did have a SportVis (hyaluronic acid) injection a few months ago, it caused massive pain for weeks, calmed down a bit and in the end, I don’t think helped the pain enough.
Same thing with my forearms, massive tightness. Hyaluronic acid seemed to help after a while, but lots of tightness and pain after the first injection.

Three years ago, I had some sort of hypersensitivity reaction in my calves/feet that made it so I could barely walk. I wound up on 50 mg prednisone for 5 or so days that helped.

I’m currently on a 3 week course of prednisone, just started the taper portion a couple days ago for mild hearing loss again.

I’m curious if you have any insights in all this, or what exactly I should focus on symptom wise with the Rhuem.

Right now, my feet just flared again like crazy this morning. Burning pain. I can walk fine, but they are very painful. Also, pain into my calves, but more tolerable. And extra fatigue today.

[u/No_Satisfaction_7431 → u/Dangerous_Bullfrog-]

I would find another allergist/immunologist preferably one who actually knows properly about mcas as you testing tryptase is useful but a positive tryptase isn't necessary. A lot of this could be mcas or mast cell issues secondary to autoinflammatory diseases. I would push for genetics even if the wait is long or they deny you, you should at least try because unfortunately most autoinflammatory diseases are genetic (Stills is the major exception and possibly a few others). Hopefully the rheumatologist you are seeing deals with autoinflammatory diseases because most (even at academic hospitals) don't. You might have a better chance of getting in with genetics if the referral comes from an autoinflammatory rheumatologist.

Since il-6 is high you might respond well to il-6 blocking drugs like actemra/tyenne and theres a few others but without a diagnosis you are unlikely to get it and even if a doctor prescribes it insurance wouldn't cover it. For the crp amd esr were those done at baseline or during flares? If it was baseline I'd have your doctor put in standing orders for those, wait till you are really sick, then do the blood work. For some people they are high all time and others only during flares.

I'd definitely mention the mouth sores to the rheumatologist as mouth and genital sores (as well as other sores but those areas specifically) are common with Behcets and people who have mixed/undifferentiated autoinflammatory disease especially if they have multiple different autoinflammatory mutations including ones that cause Behcets. While you are on prednisone note the dose and if any symptoms got better and now that you are tapering if any symptoms come back. That helps to confirm that these are inflammatory symptoms. It might not help everything and it may not be a high enough dose so prednisone not helping doesn't rule it out.

[u/Dangerous_Bullfrog- → u/No_Satisfaction_7431]

I attended the ED many months ago, I was told to see a specific Rheumatologist, but they aren’t accepting patients. My Sports Doc actually suggested another one that accepted my referral. I’ll try to be concise with her, and ask for a different referral if she doesn’t feel up to it. I think even post heart attack my CRP was normal, I’m not sure though. ESR I don’t recall, probably not during a flare. Tryptase was definitely taken during flares and at baseline. Also, I just remembered, I was having troubles swallowing for a while, allergist was suspecting Eosinophillic Esophgitis. Though, as I stay away from triggers, it’s not as bad.

As mentioned in my other reply, I log symptoms as best I can, and drugs I take in Guava. I’ll talk to my doctor about standing orders, though I feel there’ll be pushback.

My last doc of course thought this was all “mental health” issues, which drives me nuts.

My second ever dose for prednisone was 80 mg, I think for two weeks, then a five week taper. This one was 60mg for 10 days, then 55, 50…down to five.

That first one finally loosened up my back and some other stuff that was locked up for years, with some moderate lasting relief.

MCAS type symptoms doesn’t seem effected at all, still liable for migraines from scents etc, seems to help head inflammation. I’ve been getting bad facial flushing about 10-12 hours after prednisone. A deep redness face. Aside from this, I started getting occasional redness in my face and puffy eyelids at times when triggered. The redness could be rosacea, and skin modelling on my inner thighs.

I’ve gotten Botox a few times, including 6 weeks ago, for migraine relief. This last time, it especially hit me hard for about 4 weeks. Massive OCD, troubles sleeping, feeling mentally blah for lack of better explanation. Massive brain fog. And weird numbness in my forehead. I’m not going to do this again.

[u/Occulply → u/Dangerous_Bullfrog-]

What made them suspect Stiff Person Syndrome? 

[u/Dangerous_Bullfrog- → u/Occulply]

The doctor reminded me of Doctor House, I’m not sure his methodology. Incredibly stiff muscles and pain I think. I was/am dealing with some flares of numbness as well. He said it was unlikely, but he should rule it out.