National Human Genome Research Institute: Researchers discover a new auto inflammatory disease called CRIA syndrome

Kalliope

Kalliope

Senior Member (Voting Rights)
strategist said:
@Woolie didn't you have some periodic fever syndrome?
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Yea @strategist, I've been diagnosed with one. And treated for it, with what seems so far to be great success. For a little over 12 months now, I've been active, with only occasional bad days. The difference from my previous level of health is just staggering. I returned to work in February, and am doing fine. Never thought I would work again...

They're literally finding new autoinflammatory diseases every year. So much for knowing everything there is to know about disease, eh?

The autoinflammatory diseases are fascinating, because they show how readily patients can be overlooked if they have complaints that don't fit a known disease. For example, PFAPA, one of the most common ones, was once widely believed to be a childhood illness that resolves itself by early adulthood. But when someone bothered to actually follow up some cases, they found that many patients continued to experience severe episodes right into middle and late adulthood, and some were unable to work fulltime because of their episodes, or were otherwise restricted in what they could do.

Sounds a bit familiar, doesn't it?

These diseases are obviously more common that anyone ever thought. I think its extremely likely that other people on this forum have some sort of autoinflammatory disease that hasn't yet been diagnosed.
 
Woolie said:
Yea @strategist, I've been diagnosed with one. And treated for it, with what seems so far to be great success. For a little over 12 months now, I've been active, with only occasional bad days. The difference from my previous level of health is just staggering. I returned to work in February, and am doing fine. Never thought I would work again...
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Wow what a nice surprise. That shows one should never give up.
 
Woolie said:
Yea @strategist, I've been diagnosed with one. And treated for it, with what seems so far to be great success. For a little over 12 months now, I've been active, with only occasional bad days. The difference from my previous level of health is just staggering. I returned to work in February, and am doing fine. Never thought I would work again...

They're literally finding new autoinflammatory diseases every year. So much for knowing everything there is to know about disease, eh?

The autoinflammatory diseases are fascinating, because they show how readily patients can be overlooked if they have complaints that don't fit a known disease. For example, PFAPA, one of the most common ones, was once widely believed to be a childhood illness that resolves itself by early adulthood. But when someone bothered to actually follow up some cases, they found that many patients continued to experience severe episodes right into middle and late adulthood, and some were unable to work fulltime because of their episodes, or were otherwise restricted in what they could do.

Sounds a bit familiar, doesn't it?

These diseases are obviously more common that anyone ever thought. I think its extremely likely that other people on this forum have some sort of autoinflammatory disease that hasn't yet been diagnosed.
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I agree
 
Jaybee00 said:
Interesting. What was your treatment @Woolie?

Thanks
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While they were still working out the diagnosis, I was given a few treatments, to see if I would respond to them (a sort of diagnosis by elimination). One was Colchicine, which often works for Familial Mediterranean fever, but I didn't respond so that helped to rule out FMF. Then they tried me on Ranitidine and Cimetidine, which are more generic treatments for the whole autoinflammatory family. The Raniditine did nothing, the Cimetidine seemed to work for a while but then I had a huge awful episode, so figured that wasn't actually doing much after all.

Then they put me on Montelukast, and also took my tonsils out. Apparently, tonsillectomy works sometimes for kids with my disease. The explanation for that wasn't entirely clear to me, something about interrupting the cycle that sustains the continued exaggerated immune response. But that worked. The tonsils and the Montelukast happened around the same time, so I'm not sure which of those was really responsible for the improvement.

The improvement wasn't sudden, but kind of gradual. Which is odd. Right after the tonsillectomy, I was severely ill for several weeks - unable to even turn my head in bed - and then I slowly got better, and started to be able to walk around a bit. Then I was able to spend more and more time out of bed, then about a month later, I was going on walks with my dog, and even going shopping.

That was in September 2018.

For about 10 months after that, I still had some occasional short bad periods, but they were short and less severe than before. They just got gradually shorter. For the last few months I've been stable at about 90% of normal function (have to rest a little more than normal people, and have the occasional bad day where I need to rest up).

To put this in context: I've been ill since 1990, with severe relapsing-remitting flu-like episodes, which got gradually worse in the last ten years, until I had to leave work entirely in mid 2017, and was from then pretty much bedbound. So the improvement's pretty dramatic.
 
Michiel Tack said:
Would you say your ME/CFS was rather unusual? Did you have a feeling that you had a typical of ME/CFS presentation or did you think you'd had a rather uncommon form of ME/CFS having those relapsing-remitting flu-like episodes?
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There are some unusual things. Many here describe feeling cold all the time, I always felt too hot. And in the first ten or so years, I had complete remissions in between my episodes (the episodes would last from weeks to months, and would be awful, but then I'd get and equal or longer remission in between). Then in the last ten years, the "episodes" kind of flattened out, so that I was just moderately to severely bad all the time.

But then, what I discovered reading people's stories here is that variation seems to be the rule, rather than the exception.

My onset was sudden - with a severe flu-like illness that lasted 4 months. Then a couple of months on and off for the next few years. There was enough stuff in my bloods in the first few years to keep doctors interested (raised white blood cell counts and high ESR readings), but then when they couldn't find a disease to go along with all that, I got relegated to the CFS basket. Everyone seemed happy after that. Apparently, that counts as an explanation. o_O
 
Very interesting @Woolie. It does seem ME was the wrong diagnosis for you. I would be interesting to hear whether there are others with ME diagnosis with a similar pattern. One question. Are you still taking any medication for it, or did the medication and tonsillectomy seem to trigger a shift out of the illness?
I hope the recovery continues.
 
Trish said:
Very interesting @Woolie. It does seem ME was the wrong diagnosis for you. I would be interesting to hear whether there are others with ME diagnosis with a similar pattern. One question. Are you still taking any medication for it, or did the medication and tonsillectomy seem to trigger a shift out of the illness?
I hope the recovery continues.
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I'm still taking the medication. Scared to stop!
Barry said:
Did your disease previously show up in any blood tests at all?
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In the 1990s, I had some high ESR readings (erythrocyte sedimentation rate test, which they used as a marker of inflammation before the days of CRP), and high white blood cell counts. I think they eventually put these down to "probably happens to have a concurrent infection". Then no-one tested my blood for years.

I had a few tests in the past few years, though, and my CRP levels were sometimes mildly elevated (usually 7-9), and sometimes I had high lymphocyte counts, which again people just put down to "probable concurrent infection". And my blood platelet counts were consistently high. Which on-one seemed to care about at all.
Barry said:
What eventually convinced the doctors you had an autoinflammatory diseases?
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I managed to talk my GP into sending me to a rheumatologist, at my own cost. Luckily, I was feeling awful on the day I saw the rheumy, so my pulse was rapid, and my glands were a bit enlarged. He also noticed the high platelet counts, which he said is a marker of chronic ongoing inflammation. He thought there was something immunological going wrong and referred me to an immunologist.

The immunologist took it really seriously, did a lot of tests, mainly to rule out immunodeficiency and active ongoing infection. He also gave me a vaccination challenge - three vaccines in one injection, followed by bloodwork for the next few days. My CRP levels shot through the roof (the experience was awful), but I did successfully produce the right antibodies. So not immunodeficiency then. Then he did some genetic tests to try and identify if I had a monogenetic autoinflammatory disease, but I was negative on all of them, which he said was common.

So I had no positive genetic test, and my symptom profile didn't exactly fit with any known autoinflammatory disease, but he wasn't bothered by that, he said we hardly know anything about any of these diseases, and symptomatology is likely to be much more varied than we think. He wasn't going to be bogged down by the limits of the disease models, so he just gave me a working diagnosis of "probable PFAPA" (a common autoinflammatory disease, of unknown genetic origin), and worked on how best to treat me.

What a guy, eh?

After I got my tonsils out, they sent them to the path labs, and apparently they showed evidence of chronic inflammation. So @Trish, it could have been the tonsillectomy after all.

If you want to see how well you might fit an autoinflammatory disease diagnosis, a good thing to look for is how you respond to the flu jab. Autoinflammatory diseases are characterised by excessive innate immune activity, and the innate immune response happens rapidly, within the first 24 hours after an immune challenge. So if you have one if these diseases, you'll feel awful within the first 24 hours after the jab (although it could easily go on for days or weeks after that). Surgery is likely to have a similar effect, because its also an immune challenge: within the first few hours after the tonsillectomy, I felt like I had the worst flu ever, and it lasted for weeks.
 
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Woolie said:
I'm still taking the medication. Scared to stop!
In the 1990s, I had some high ESR readings (erythrocyte sedimentation rate test, which they used as a marker of inflammation before the days of CRP), and high white blood cell counts. I think they eventually put these down to "probably happens to have a concurrent infection". Then no-one tested my blood for years.

I had a few tests in the past few years, though, and my CRP levels were sometimes mildly elevated (usually 7-9), and sometimes I had high lymphocyte counts, which again people just put down to "probable concurrent infection". And my blood platelet counts were consistently high. Which on-one seemed to care about at all.
I managed to talk my GP into sending me to a rheumatologist, at my own cost. Luckily, I was feeling awful on the day I saw the rheumy, so my pulse was rapid, and my glands were a bit enlarged. He also noticed the high platelet counts, which he said is a marker of chronic ongoing inflammation. He thought there was something immunological going wrong and referred me to an immunologist.

The immunologist took it really seriously, did a lot of tests, mainly to rule out immunodeficiency and active ongoing infection. He also gave me a vaccination challenge - three vaccines in one injection, followed by bloodwork for the next few days. My CRP levels shot through the roof (the experience was awful), but I did successfully produce the right antibodies. So not immunodeficiency then. Then he did some genetic tests to try and identify if I had a monogenetic autoinflammatory disease, but I was negative on all of them, which he said was common.

So I had no positive genetic test, and my symptom profile didn't exactly fit with any known autoinflammatory disease, but he wasn't bothered by that, he said we hardly know anything about any of these diseases, and symptomatology is likely to be much more varied than we think. He wasn't going to be bogged down by the limits of the disease models, so he just gave me a working diagnosis of "probable PFAPA" (a common autoinflammatory disease, of unknown genetic origin), and worked on how best to treat me.

What a guy, eh?

After I got my tonsils out, they sent them to the path labs, and apparently they showed evidence of chronic inflammation. So @Trish, it could have been the tonsillectomy after all.

If you want to see how well you might fit an autoinflammatory disease diagnosis, a good thing to look for is how you respond to the flu jab. Autoinflammatory diseases are characterised by excessive innate immune activity, and the innate immune response happens rapidly, within the first 24 hours after an immune challenge. So if you have one if these diseases, you'll feel awful within the first 24 hours after the jab (although it could easily go on for days or weeks after that). Surgery is likely to have a similar effect, because its also an immune challenge: within the first few hours after the tonsillectomy, I felt like I had the worst flu ever, and it lasted for weeks.
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woolie would it be ok if I sent you a PM?
One of the parts of my ME is severe reactions to the flu jab - I’ve deteriorated rapidly after 2 flu jabs, as well as having an reaction within 24 hours to them, to the point my GP practise nurse has told me to stop having them. I’ve recently been wondering if I have something other than ME, as well, because of my lupus and other things that come up in my blood work.
 
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@Woolie: Do you mind if I ask if you had periodic fevers?

I had a sort of relapse-remit flu-like thing going on starting at menarche at 10 yrs old but surgery on my knee and ankle at 26 is what left me completely disabled. Got really sick several years ago from a DTAP jab (have avoided flu jabs, though it's been so long that I can't remember if that's because I had a bad reaction or just heard of other PWME having them). And my ESR is usually slightly elevated. That said, my lymphocytes/white blood cell count is usually borderline low (and remained normal even with a fever of over 104 F). And while I had a few fevers about five years or so after surgery, I haven't had any since the mid 2000s. And I'm always cold. Except when I get hot and then can't cool down. ;-)

At any rate, hadn't noticed you mentioning anything about periodic fevers. Wondered if that was essential for auto-inflammatory conditions.
 
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