Unspecified Autoimmune disease

[TiredLurker]

So I went to my GP recently and mentioned I was feeling washed out. I have chronic pain and 2 kids under 5, so you'd think that was enough but it's not really improving regardless of whether I'm well rested or not.

Anyway, 2 bloodtests later and it looks like I have some kind of unspecified autoimmune disease. Not Lupus or Rheumatic Arthritis but a fun third option that apparently I need to get some sort of genetic test to narrow down.

Except my GP doesn't reckon it's worth me going to see a specialist over it, largely because in her opinion the treatment for autoimmune diseases isn't worth the side effects, since I don't have one that's actively killing me (as far as we're aware).

What I do have: feet that ache basically all the time but especially when I get up of a morning, fingers and knuckles that feel stiff a fair amount of the time, fatigue, stiffness, and general irritable bowel, although there's a possibility that's related to the fact that as of about this time last year I don't have a gallbladder anymore.

I also have an entirely separate chronic pain condition that this isn't worse than. To put things in perspective I didn't consider childbirth to be as painful as a bad flare up (long story, but suffice to say it's scar tissue from a botched appendisectomy, and I had some nervous sensitisation in the area), and the only reason I noticed that I was having gallbladder issues was because I got nausea with the pain AND it was in a different spot to normal.

So suffice to say my pain tolerance is off the charts, and so I don't necessarily trust myself to make a call on whether a particular amount of pain is worth noting.

That said, the feet thing does make me limp, and I used to get bouts of pins and needles in them before the ongoing pain started.

So having written this all out I'm suspecting this is a stupid question, but if you were me, you'd chase a further diagnosis, yeah?

Yes, I’d ask for referral to rheumatology.

My DH has AS (which causes joint pain, spinal fusion and bowel and eye issues). Without treatment he’ll end up with his spine fused in a wheelchair by the time he’s 60 so I think it’s a bit laissez faire if the GP to suggest forgoing any testing because it won’t kill you. I’d definitely push for a rheumatology referral

Echoing that you need a rheumatology referral. They can check for many more things than a GP can

Its nor really about a disease not killing you, its about keeping you as well as possible for as long as possible. Many treatments don’t make things better but they can stop things getting worse. Rheumatology and neurology would seem sensible referrals.

Definitely ask for a rheumatology referral. You may not get a diagnosis straight away, but undifferentiated auto immune is a recognition that there is something wrong. If you know the condition that is possible it might be worth finding a health board with someone who specialises in that. If not just getting into the system for rheumatology means you will get regular checkups. I have a very rare autoimmune connective tissue disorder and the gps, while they mean well, haven’t a clue.

For sure you need to see a decent rheumatologist and team of specialist physios. They know their stuff

Yes, find out exactly what you are dealing with. There's always hope, your GP may be unaware of new treatment options!

Medication is vital to prevent conditions like RA worsening so get to rheumatology as fast as possible. Also medication alleviates symptoms. You absolutely can’t just leave it!

Img if there's pains thay means there's inflammation which means damage is being done. Push for a referral. It's taken me 5 years if pushing including through covid to finally get an RA diagnosis. I was the random option for 2 years until my blood showed enough for them to confirm. Just had my first steroid injection. Zero side affects except I'm pain free (mostly) and have been for 3 weeks now. It's been life changing

Echo the others. Ask for a Rheumatology referral. Just because it won't kill you (how would she know that??) doesn't mean you won't become housebound, or even worse bedbound. The rheumatologist can refer you to other departments so push for that one first.

Rheumatologist referral, this is their specialism and they'll narrow it down with tests to rule things in/out. There are lots of drugs now, D.MARDs, biologics, anti tnf. As previous pps said, these can halt disease progression. What blood tests have you had via GP?

Agree with PPs. That is a ludicrous reason not to investigate so you on is what you have, can speak to a specialist and discuss options. It’s not just about life or death, it’s about quality of life and about maintaining health in the longer term. And not everyone gets side effects from medication even if they are likely. Or for you maybe the side effects are better than the condition or the risks of not taking medication. But you can’t make an informed choice without information and it’s really not up to the GP to gatekeep in this way. Push for a referral.

What blood results have people had that point to AI disease please?

It depends what is suspected based on signs & symptoms be it thyroids, inflammatory bowel diseases, connective tissue diseases like sjogrens, rheumatoid arthritis. There are 200 that medics are aware of. Do you think you might have something wrong? Are there autoimmune conditions in your family?

I have hashimotos and underactive thyroid.

My infection markers are aleays high and I was wondering if that is indicative of AI issues

Sounds like you are being fobbed off . It sounds like inflammatory arthritis. I had to push to be referred and it was worth it to get a proper diagnosis and some support. You don’t have to take medication that they suggest if it’s not something you want but they monitor your bodies reaction closely with blood tests.

@BilliBean You already have an autoimmune condition Hashimotos, which I presume causes an under active thyroid. Unfortunately, quite often when you get one autoimmune condition more can follow but not always. I think rheumatoid arthritis and coeliac but I'm sure there are others. If you think you have the symptoms for these then ask your GP for some blood tests specific to those conditions. (For coeliac continue eating gluten until tests concluded).
Edited as I forgot to ask you what infection markers are high if you know?

Thabks.

Ensolphil/white blood cell were high

I was tested negative for Coeliacs

Echo everyone- go to a rheumatologist.

I have been going back and forth to the GP for 5 years now. I have pernicious anaemia and was recently diagnosed as gluten intolerant. But there was nore than that and after me pushing hard for a referral (ignored by the GP who said with rolling eyes and clear boredom most of my symptoms are because i am 2 stone overweight) paid for a consult and am MRI and I have rheumatoid arthritis and fibromyalgia. I am just bloody relived to have a path forwards.

Wtf sort of attitude is that from your GP. Wow just wow.

I had a rheumatologist once tell me I was lucky to have the lupus that didn't involve organs. Then another telling me if I do have lupus (other rheumatologist diagnosed it 6 years earlier) it's the mildest form end even seen. Fast forward 3 months they are giving me 3 weeks to live if I didn't take meds, even then it was touch and go whether I'd live.

Hope you get a referral so that you get to make an informed choice on whether any potential side effects are worth putting up with. It's meant to be a patients choice.

I thankfully now have a brilliant medical team who are often restricted by the ict rules but they involve me in making decisions.

Keep pushing OP. Was in the same situation as you last year. Had flagged for an autoimmune disease in standard blood tests but couldn't be specified. Have had another god awful flare up of pain and I've got an appt with rheumatology next week, finally. Hoping that there will be an outcome!

Definitely push for a referral. Depending what you have then drugs can make a massive difference to lifestyle and disease progression.

@BilliBean I looked at a few resources and eosinophils can infiltrate the thyroid gland itself with Hashimotos thyroiditis so I would imagine it's that but maybe ask your GP next time you are there. I have 4 friends with thyroid issues and they are wiped out at times.

This. Constant inflammation causes damage. Treatment prevents long term damage.
There are conditions that are not RA but can progress to RA. Treatment does have side effects but it also can stop pain, stiffness and whatever else your symptoms are.

Sounds like me, especially the feet - can’t walk in the morning during a flare. General aches. Incredibly dry eyes (can’t open them). Lupus rash on face. Do you have a rheumatologist? Mine diagnosed me with ‘undifferentiated connective tissue disease’, takes elements from RA, sjogrens, lupus etc. It’s a diagnosis of elimination annoyingly. He referred to it as pre-lupus but unlikely to develop into lupus.

Genes load the gun for autoimmune and environment pulls the trigger. Have you got any environmental factors going on? Mine came on after big physical trauma event. I have a very autoimmuney family.

I’m not on any meds, see rheum annually, luckily I have a flare up only once or twice a year, got way better after I had my last child, which is a classic autoimmune thing apparently. Try and minimise inflammation and look after yourself. And yeah get into a specialist!