GP thinks mri shows I have ankylosing spondylitis. Rheumatology won’t see me

[BadBackBadAnkles]

So I had private genome mapping which showed I have a 5x increased risk of AS due to a gene I have. I hadn’t heard of this and googled and I have textbook symptoms

serious bad lower back but even worse SI joint pain for years, since my mid 20s. I can have a few weeks/months where the pain goes. But it’s been pretty much constant for five years now, though flares up in intensity.

wake in the night with pain, worse first thing, then I warm up and it improves slightly but is worse if I stand or sit in one position for too long. I can’t sit on the sofa and watch tv, haven’t been able to for ten years.

very bad ankle pain where my peroneal tendon attaches, one ankle started 7 years ago, the other ankle started last year. Again worse in the morning. Can be unable to walk more than 100ft some days, the next day I can walk 3 miles (still painful). I’ve been seen by one of the top ankle orthopedic consultants in the country who repaired my peroneal tendon which was torn but nothing improved pain wise. I feel both calf muscles are “shortening” and gradually seizing up.

I have seen countless physios, sports exercise people, osteopaths and do exercises daily for ankle mobility and calf stuff as well as glute/hip work. Nothing helps.

i went to see the gp who tested me for inflammation markers which was negative. Also tested for the hla-b27 gene and that was negative. My private test showed a different gene and the report said it was AS related gene but it’s not the common hla-b27 one.

had an mri and the report is now back. Shows bone erosion suggestive of AS. Referred to rheumatologist. Rheumatology have now declined to see me as they said no evidence of Sacroiliitis so it can’t be AS and asked radiology to look at the images again.

but I’ve been googling (I know) and stuff I’ve been reading says that bone erosion is caused by either AS or Rheumatoid arthritis…..or other rheumatoid disease. I don’t think I have RA. 🤷‍♀️

so why would I have bone erosion if I don’t have AS?

also there are cases of people with AS where it doesn’t show on mri. They will diagnose people with symptoms who have the hla-b27 gene and call it non radial AS. But it seems because I don’t have that gene but a different less common one then they won’t count that. But 20% of people with AS don’t have the hla-b27 gene so its possible to have AS without the gene.

anyone any experience or knowledge please? Currently waiting for the radiologists to review I guess. I could pay privately to see a rheumatologist if needed but guess no point if they’re going to be adamant it isn’t AS. Am worried they’re missing it when potentially if I had a diagnosis I could have medication to help.

Hello - search for the NICE guidelines on when a referral to rheumatologist should be made. See if you fit some of these points. If you do, Then put in writing a complaint, quoting NICE and your case. Make sure you state this is a formal complaint. Go directly to the Rheumatology department. If they don’t respond in a timely manner then go to PALS, for advice.
all nhs departments have processes for complaints they need to follow. But you have to be clear about 1) this is a complaint 2) why and 3) what is it you are wanting
good luck

I believe you have bone fusion with AS.

Is the ankle very sore to touch at the back?
I was told this is inflammation, which could be linked to AS.
Have you gone onto this website?
They are a fountain on knowledge.

https://nass.co.uk

Hi there. I was going to suggest the society ppl suggested.

Can I ask a bit more about the gene you have? How much was the mapping.

We have a similar situation here where orthopedics referred but rheumatology said you don't have the hb gene but I'm interested that there are other genes.

Thanks, yes have done the symptom checker on the NASS website and have everything apart from eye problems. Saying that last Sept I did have an awful issue with one eye which lasted about a week, really painful burning and couldn’t open it for a week due to pain. I assumed a contact lens had irritated it and stopped wearing my lenses for a while. Nothing since.

Yes my ankles are terribly sore, painful to the touch. Can’t walk down stairs anymore as painful to flex. Ankles feel fused, barely any dorsiflexion.

No bone fusion on the mri, just erosion but from reading stuff online sounds like the bone fusion comes later/doesnt happen to everyone.

@Frowningprovidence i did the genome mapping via Promethease website. I just had to download my raw dna file which I already had via a 23andme dna test. Cost £12 for the genome mapping and got a report in 20 mins. Ive just gone back to copy out the gene number and they’re doing an update but I’ll come back once I can get it and update.

Also 20% of people with AS don’t have that main gene which the nhs test for so rheumatology shouldn’t just have fobbed you off like that if you don’t have it.

@Frowningprovidence

Ra7743761 (A, c)

Each A allele at rs7743761 is associated with 4.6x higher risk of ankylosing spondylitis, according to a 2007 publication.

🤷‍♀️

Thank you for getting back to me. I will look into this

You need to be going to the GP with the problem and not what you think the solution is, the genome is only associated with risk, not diagnostic and the cases you mention as being genetically diagnosed would also have symptoms.

There are loads more causes of erosion, injury and osteoporosis for example. It's important you go down the right path because it could sound as if you are putting 2+2 together and jumping to 5.

The lack of inflammation is why rheumatology won't see you, that is evidence of autoimmune disease. Much much more diagnostic than a genetic association. If you started with ortho and they thought the type of damage was inflammation related, they'd then refer you on to Rheumatology, but don't skip that step.

The genetics is also only increasing your risk from 1 in 1000 to 4.6 in a thousand, this is very minor and not a good reason to skip looking for other potential causes.

It's so hard to know who to see about these things. @LadyQuackBeth but you are right that its easy to add 2 + 2 and get 5. I think it comes from desperation.

In my sons case, GP referred to ortho, orthopedics referred to rheumatology who said no its ortho. In the meantime I have a 17 year old declining before my eyes with no actual help. He had to quit one job, quit his sport, he is missing school quite a bit, he cant sleep, hes off his food, The bones in his spine as are fusing together more at each 4 month x ray and has had raised inflammatory markers for a year now.

I've even gone down a rabbit hole of spinal TB as he had a terrible cough at the start which was diagnosed as whooping cough at the time but on symptoms, not verified with a test. So I can see why op is thinking of anything.

Anyway it's not my thread, but I hope op gets every angle investigated as you suggest and finds a solution.

Yes I’m back at the GP tomorrow to ask about next steps. It’s just frustrating because the consultant radiologist clearly wrote on the mri report that he sees changes “suggestive of ankylosing spondylitis “. I know he’s not a rheumatologist but you’d have thought he sees stuff like this quite often??

@Frowningprovidence sorry to hear about your son. I know how hard it can be to get chronic stuff especially auto immune stuff diagnosed. My dad had wegners granulosum, dh has bullous pemphigoid, dd has POTS, coeliac, EDS. I have EDS (and possibly my pain is connected to that). I know what it’s like for someone to be unwell, not diagnosed, no investigations, not listened to, etc. I actually joined an AS group on fb to ask for advice and stories there of people being told (even by rheumatologist) that it’s not AS only for a few years later to be diagnosed. I’m very tempted to go private to make sure I get a rheumatologist with an interest in AS.

but yes, if it’s actually osteoporosis related or something else that’s important to find out.

My inflammation markers are usually low (blood test) but I feel like sh1te most of the time and that’s whilst on medication. I have AS.