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Are you HLA-B27 positive or negative?

I posted this forum on the AS site. I thought it was important to share here too.

HLA-B27 seems to be the main gene that they test for when diagnosing someone with AS. But it seems so many people are negative.

I am negative.

Are you HLA-B27 positive or negative?

Ali (Community Member)

  1. i am negative. I have been bouncing around between doctors for 25 years and though my current rheumatologist puts axSpa on my chart he won’t really say for certain. At this point I have disabling fatigue and pain, a spine that is self fusing both cervical and lumbar, spinal stenosis in cervical, thoracic, and lumbar spine, total joint destruction of both knees and left ankle among other things. I have been diagnosed with hEDS. I never have high inflammatory markers. All bloodwork is negative. My brother has the same. Doctors have been zero help other than pain management and many surgeries. I am more than fed up with living like this and no help.

    1. - this I also understand. The biologics and DMARDs have done very little for me as well the past 6-7 years with this disease and my joints are continuing to breakdown rapidly. There's more surgery in the future I am afraid. I am considered treatment-resistant and take a few different things to help with pain and dysfunction, such as muscle relaxants, pain meds tramadol & diclofenac (Rx NSAID), and Xeljanz XR for AS, RA, and OA - as well as manage migraines with injections and pills, IBS with 3 different pills, and anxiety and depression with 2 pills to name a FEW comorbidities. It's horrendous. The number of doctors treating me is about 10 and they somewhat work with each other to treat my issues by communicating. The whole "electronic records" as a law (HIPAA) actually did help in my case - they are able to be listed as treating doctors and can pull up notes posted from other physicians taking part in my care.

      I recently was scheduled for evaluation by a nurse practitioner - I filled out all the paperwork and scheduled well in advance. She called a week before my appt and stated I was too complicated a case, that she felt she would not feel comfortable treating me, and referred me to another practitioner, who I finally met with last week for treatment. She was up for the challenge and said so. At least the first specialist had the insight to say "this is way too complicated and above my head" and was able to find a replacement. I am eternally grateful.

      If he is a PCP/Internal medicine physician, he should be well aware that he should refer you out to the appropriate specialists, and not tackle the complex issues. He is there to guide your overall health and wellness by providing basic aid to such things as allergies and asthma issues (if not responding and send off to a specialist), or by doing labs occasionally as well as monitoring the heart with EKGs and giving clearance for surgery when needed. When a doctor throws something like that in your face - Personally, I would plainly ask them "Is there someone who can help me? Do you have a referral or suggestion of where I can go to get help?" Because this disease is multifactorial - usually one doctor is not enough. Please do not give up looking for adequate treatment - it's out there. I'm so very sorry you've been through such trials and tribulations with this disease. I am thinking of and sending unending support your way fellow traveler - Rebecca (comm advc)

    2. Hello - sorry to hear you've struggled for so very long. You've been through a lot.

      Stated - "My new rheumatologist is assessing me for non-radiographic ax-SpA. She decided to investigate the nr ax-SPA possibility when I told her I that when I was treated with prednisone for an unrelated nerve issue, my pain and fatigue symptoms improved significantly. She said that would have been unlikely to happen with fibromyalgia, as fibromyalgia is not an inflammatory condition."

      OMGsh - doesn't it feel awesome when the prednisone eased your pain!! I yearn for this pain relief daily living with spondy. I am not on prednisone often but when I am I feel so energized and able to tackle the world. It's awesome that your new rheumy picked up on the fact your pain eased considerably when on prednisone for nerve issues. Stick with this one, she seems tuned into your health and wellness.

      As for X-rays - I want to put my thoughts out here. I am not for x-rays when it comes to spondy and I'll tell you why. X-rays show alignment most of the time, and rarely inflammation or damage done by AS. I am all for MRIs and CT scan that can illuminate soft tissue damage in addition to spinal damage and inflammation causing problems. Every time I had an x-ray when complaining of pain in my spine, I got "your x-ray is normal, you're fine" - and I want to scream bc I know something was wrong. This includes my hips as well as the shoulder joint break down. Others may be of the opinion x-rays help with diagnosis in AS but RAWR - I hate only being sent for an x-ray for help with diagnosis. Hoping you get an MRI scheduled sooner than later. These will help distinguish your level of damage due to inflammatory arthritis.

      Stated - "Although symptom-wise I seem to fit the profile for nr-axSpA, (apparently women are more likely than men to have issues with neck rather than lower back), parts of the normal diagnostic profile (inflammatory markers, HLA-B27+) are not there. Is it likely I would diagnosed with nr-axSpA on the basis of symptoms and an MRI alone?"

      Just because you test negative for the HLA-B27 gene, it does not preclude you from having spondyloarthritis. "HLA-B27, since its discovery in 1973 [4], constitutes the main genetic factor related to disease etiopathogenesis. However, nearly 10–20% of patients with defined AS do not carry HLA-B27, which increases to 40% when analyzing non-radiographic axial spondyloarthritis (nrAxSpA) [5].",(nrAxSpA)%20%5B5%5D. Seems 40% of those with diagnosis of nr-AxSpA are negative for HLA-B27 gene. Being negative should not deter you from getting a diagnosis of SpA.

      As for inflammatory markers. My markers were consistently normal for decades when pain and inflammation ravaged my body and did their job destroying my joints and spine. Only when I was in a severe 5-year flare (prior to diagnosis) did my markers change and showed the immense impact of inflammation - they raised quite a bit. They are now down due to adequate treatment with Xeljanz. And hopefully, I can get them to remain low. I feel so much better enthesitis-wise with improved energy. Having your inflammatory markers remain level and normal should not preclude you from recvg a diagnosis of SpA. These normal markers can actually prevent and delay diagnosis for a long unmanageable time - even decades. Two articles of interest.

      Also, on our site here are a few links of interest on this topic.

      I hope you find the information above helpful, and what you were looking for. As for your health, I hope you find answers, treatment, relief of pain, and eventually develop a newfound peace through the struggle. Thinking of you - Warmly Rebecca (comm advc)

  2. Just diagnosed yesterday at Mayo in Jacksonville after 40 years of RA misdiagnosis. Luckily, I have received some treatment through the years. I was started on Humira a few months ago and it has helped a lot. I have Sjogren’s and lots of osteo too so good times!

    1. - Terribly sorry to hear you have been misdiagnosed for so long, but glad you had some treatment. Its great Humira has helped with pain and inflammation. Have you had to take other DMARDs or NSAIDs to assist this medication in reducing pain/inflammation? Just wondering if you've been tested over the years for HLA-B27 and inflammatory markers, and how those related to your disease process? Hoping you can begin to manage your spondyloarthritis so much better. Thinking of you - wishing you only the best of health in the future. Rebecca (comm advc)

  3. Hey Ali Thanks for sharing this really good topic.
    I tested positive for the HLA B27 back in 2018 that's how i found out i had AS a few weeks after I tested positive, I was diagnosed after extensive imaging testing but i have also understood that a person can test negative but still have symptoms so i guess its something that still needs to be researched and studied to better understand the gene.
    Nadine (Team Member)

    1. Hello Ali, thank you for the message. I’m getting a lot of pain in my neck and lower back. My GP has given me Gabapentin which isn’t helping much. My rheumatology appointment is at the end of April, it’s been a long wait. I’m so fed up with feeling unwell. How are you? I hope you are well xx

      1. oh I’m so sorry that your still waiting for your rheumatology appointment. It’s so soon now! I hope you get all the answers you need. Incase you find this helpful, I’ve written an article about how I prepare for my rheumatologist appointments you can read that here

        If you have any questions please feel free to ask.
        I hope you get the answers you need and I’m sorry that your dealing with so much pain.
        Ali (Community Member)

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