I have been suffering with what I believe are all symptoms of an unknown autoimmune disease ,apart from a face rash and organ damage, for around 4 years.
My blood results showed positive for HLAB27 & ANA ELISA with a low titre rheumatoid factor.
I also suffer with psoriasis, hair loss, extreme debilitating fatigue, hair, swelling, joint pain and stiffness, dry eyes ect.
I’m having difficulty (as is the rheumatologist) as both my x-rays and my spinal MRI has come back clear. He says it is extremely difficult to diagnose anything because of this but has recommended naproxen.
Can anybody recommend a way to increase chances of a clear diagnosis, I am missing so much work I’m afraid I may lose my job, it has taken over my life for weeks and months at a time.
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Ryane96
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Unfortunately there is strict criteria set in place to issuing diagnosis. I assume from the fact you focus on spinal symptoms, that you are looking at a spondylarthropathy diagnosis. If your rheumatologist requested the MRI I’m sure they would have ordered a stir sequence MRI, which is a setting to highlight inflammation. I’ll attach some graphs which show what is required for a diagnosis to be obtained. What are your inflammatory markers like, as in your CRP & ESR.
Thanks for replying! That is what the doctor thought I may have, however from the results he has said that it is unlikely to be spondylarthropathy. I was slightly confused as to why he focused on my spine as the pain I experience in a flare is located in my knees, wrists, hands, hips ect. I have always had back pain but due to office based work. My mri showed L4/5 spinal joint has a slight bulge and lacks moisture. My CRP is below the threshold, my ESR is 5mm out of a standard tangle of 1mm-12mm.
The X-rays were taken on my hands, knees and pelvis and all came back normal, however the redness and swelling I suffer in my knees and hands are really puzzling me by not showing up on there.
Hopefully you get some answers soon. Although I have AS, it affects all my peripheral joints. Both knees the kneecaps are partially dislocated due to the tendons calcifying and shortening. Two of the toes in my left foot are also dislocated, as well as having nodules in my hands. It affects my ankle, shoulders, hips, hands and feet. 50% of patients with spondyloarthritis never have raised markers, even in a flare. I’m in that group, even though the inflammation has damaged both my heart and lungs. So don’t let a dr dismiss the possibility based on normal bloods. I take a biologic for my spinal symptoms and MTX gir my peripheral symptoms. Good luck getting answers 🤗
Have you or doctor thought about psoriatic arthritis. Can be hard to diagnose
I have psoriatic arthritis (PsA). It went undiagnosed for 20 years, even after being referred to rheumatology some 10 years ago, due to completely normal bloods: with a knee the size of a basketball and crippling pain, my crp and esr are both completely normal. My RF and anti-ccp are normal, and I’m negative for all the other antibodies, including hlab27. This is common in PsA, with the majority of patients being completely seronegative, meaning they consistently have normal blood work. Have you ever had an ultrasound of an actively swollen joint? This was ultimately what finally got me diagnosed: xrays will only show bony changes associated with joint damage over time, and this varies from person to person, but ultrasound is definitive for inflammation. After 20 years, I have some osteoarthritis that shows up on xray, but nothing extensive enough that they considered inflammatory arthritis as the root cause. My GP sent me for the ultrasound of my hand more or less on a whim because they couldn’t think of anything else to do with all my blood work being normal but visibly swollen joints, extreme pain, and constant fatigue. The other question is have they given you steroids like prednisone? If they have and they improved your symptoms, particularly pain and swelling, then that would reliably indicate you have an autoimmune condition at the root of your symptoms.
From being a member here, sometimes it can take years for rheum to reliably establish what the underlying condition is, but that doesn’t mean you can’t be appropriately treated in the interim, and the treatment pathway for all inflammatory arthritis is effectively the same. Other types of autoimmune condition may have slightly different pathways, but methotrexate, which is the first drug tried for most people, is also an appropriate option for many other conditions.
I agree completely, I suffered 23yrs before getting my diagnosis. 5yrs of those were under the care of rheumatologist. My bloods were always reasonably good, and they decided I had polymyalgia and put me on steroids. I had a lot of symptoms especially in my head they couldn’t explain, so I travelled 250 mile to see an expert in polymyalgia. Straight away she said there was more going on than polymyalgia. She ordered pelvic X-rays and found my sacroiliac joints were fused. She then ordered an mri and referred me to her colleague who is a medical adviser for NASS, the charity that looks after patients with ankylosing spondylitis. I was quickly diagnosed AS, as mri showed ribs were fused. She was angry and said had they mri my pelvis, which was my worst area, they would have found it years previously. I was so deconditioned by the time I was diagnosed, I struggled to do anything. She referred me back to my local team with instructions for urgent biologics. I wish I were still under her care.
It’s so frustrating, particularly when stories like ours are more like the norm than being far from unusual. The time it takes to diagnose people with anything other than seropositive RA really is so much longer than it should be, and the unnecessary damage done as a result is functionally difficult to live with. There were countless opportunities when they could have done an ultrasound on one of my swollen joints over the years, and on occasion the GP even gave me steroids: I just didn’t know enough then to understand what it meant that they helped. But it’s pretty damning that even rheumatologists can so easily miss fairly common diagnoses: AS and PsA are more uncommon over RA, but they’re not considered rare by any stretch. I’m still far from convinced that my back issues have been properly accounted for. I have ‘with spinal involvement’ tacked on to my PsA diagnosis, and recent pelvic mri shows degenerative lumbar changes in addition to SI involvement, but my upper back and shoulders are also bad. Even though I have a diagnosis, my care over the last 2.5 years hasn’t been as good as it should have been, even allowing for covid. I constantly feel like I have to prioritise pain and symptoms to get anywhere, if that makes sense? Focus on getting this bit diagnosed, when I have that, start on the next most pressing problem 👀🙄
I agree. Nass are currently fighting to reduce the time to diagnosis to 1yr, it currently stands at 8.5yr which is shocking. As a result of being left on steroids for years, I developed severe adrenal insufficiency, which was only diagnosed when I had a severe stroke at 52. I had no family history, low BP and cholesterol in range. However they test my cortisol on admission due to being on steroids and it was undetectable, when it should have been over a 1000. I was formally diagnosed AI 3 weeks later when they did the stimulation test. I now have to carry an emergency intramuscular injection at all times to use if sick or ill. Good or bad stress now can have me on a downward spiral. Usually starts with nausea, lightheaded, headache, then get drowsy, slurred speech, to losing consciousness. Frightening for those around me, as a simple argument can trigger it. I do think rheumatologists are too quick to dismiss things when bloods are normal. I have a page open on my phone where Nass quote 50% of AS patients never have raised markers. I have heart and lung damage due to the inflammation from AS yet my markers are always normal. When I remind him of this he has no answer. It is always a battle to get the necessary tests to prove your right, which adds an unnecessary cost to the nhs. I’ve had ultrasounds on 3 separate occasions of shoulders, feet and hands to prove to me it’s not AS, yet each time has proved I’m right, and resulted in changing my MTX dose. Whilst waiting for U/S your left struggling for weeks or months. Why do they not just listen to us, the expert patients. Sorry for ranting 😂
I’m so sorry Maureen - your story absolutely saddens me as I find it unacceptable for doctors to leave you suffering for years and not to listen to you do you mind me asking how long you were taking steroids for (and what dose) for the AI to kick in?
I was on steroids for 4yrs at doses mostly 10mg and below. It was only when I got below 7mg in 2017, I started losing weight without trying, was nauseous and had a loss of appetite, having to force myself to eat. GP blamed ENT issues and referred me. I now know they were classic symptoms of my adrenals struggling, but was forced to continue tapering. I’d got down to 4mg when I had the severe stroke, now known to be caused by an adrenal crisis. I had noticed I’d gone from someone who never worried, I worked as a ward sister, to everything stressing me out. Intolerance of stress is another symptom of AI. My adrenals are completely atrophied and will never recover. The best way to explain how I feel when I wake, is when your iPhone refuses to work as the battery is at a critical level. That’s me until my morning steroids kick in. Healthy individuals start to produce cortisol from 4am in preparation for getting up in the morning, I don’t get that.I should say I know of many AI patients who only had a couple of joints injected and developed AI, although they have a much higher chance of recovery if adrenals haven’t started atrophying. It is a rare illness which few GPS understand. My GP is 60, and I’m his first patient. Unfortunately there is no way of knowing if you will be one of the unfortunate ones to get AI. Hope this helps
I'm so sorry to hear this Maureen and Rayane what a horrid predicament you are all in .Maureen , I've been on steroids for five and a half years and numerous times tried to taper but when I get down to 8mg I get infections and like you first things in the morning I can't even go to the bathroom if I haven't taken my steroids yet several consultants are saying they don't think I have any thing andrenally wrong even though my markers are low.
I had loss of weight , appetite and just couldn't get.ojt of bed .
I'm currently on 13 mg and don't feel too bad but as I get towards the 10mg mark that's when things really get rocky .
Ryane , I hope so much that you get treatment and answers very soon .
I'm sorry I can't be of more help but didn't want to read and run .
When you get down to the lower doses and symptoms return, ask your gp to do an 8-9am blood cortisol. You hold off your steroid the morning of the test, and take after blood is drawn. That will tell you if your adrenals are working. Although prednisolone is daily for its anti inflammatory effect, it only acts as cortisol for around 8hrs. So most AI patients use hydrocortisone as it mimics the body’s production of cortisol with its peaks and troughs. I tried and didn’t get on with HC as my inflammatory pains increased and I quickly gained 35lbs. So my endo decided I’d be better back on pred. I need to take it twice a day, otherwise I get the nausea, lightheadedness and headache from late afternoon. I take 5mg split as 3mg at 7am and 2mg at 3pm. Initially I was on 7.5mg but after being diagnosed with heart and lung issues and starting treatment, I was able to taper down. If the blood test came back low you would need referring to an endocrinologist, who would do an SST - short synacthen test, where they artificially try to stimulate your adrenal. My levels when I had the stroke were undetectable, when they should be in 1000s in that situation. Morning cortisol should be 350-500. Anything below 350 should be investigated if you get symptoms. Hope this helps. It’s important to know if your adrenals aren’t functioning, as you would need to carry the emergency injection kit for vomiting, illness or injury 🤗
I had no idea that this could be a side effectOf prolonged use of steroids. I’m on prednisolone now for almost 2 months - started on 10mg but have tapered down to 7.5 and recently to 5. I was told I can continue on it for 3-4 (even 6) months and shouldn’t be worried. I now wonder if that’s the case.
Thank you for raising awareness around this issue Maureen!
Have you thought about switching hospitals to get a second opinion? The quality of doctors can vary. I've had good and bad. I went nearly 2 years before being diagnosed with RA. In that time doctors just said they didn't know what was wrong with me. Looking back I had classic RA symptoms so I can't believe that RA wasn't even suggested as a possibility. I eventually went private just to get a diagnosis and was told I had palindromic (if I remember correctly) RA. This eventually became full on RA. The consultation cost £200 but it was worth it to find out what was wrong with me. NHS finally caught up, but I believe going private speeded things up.
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do you mind me asking how long you were taking steroids for (and what dose) for the AI to kick in?
Struggling 
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Struggling with tiredness
