I have finally received a definitive diagnosis for Ankylosing Spondylitis (AS) which, is now referred as Axial Spondyloarthritis, following my travels on a long and winding road of differential diagnosis in rheumatology. Axial Spondyloarthritis (axial SpA) is an inflammatory arthritis where the main symptom is back pain. I have suffered with back pain since my early twenties, which become more and more disabling in my thirties.
I know that in average there is an 8.5 years delay in receiving an AS diagnosis. I suspect this is even longer for women, as AS is more common in men, whilst Fibromyalgia is more common amongst women, so they are more likely to receive Fibromyalgia diagnosis due to epidemiological phenotypes. There is also a question of how the diagnostic delay is measured, some studies measure this from when symptoms have started, while others measure it from first consultation about the symptoms with a GP or seeing a rheumatology consultant. As back pain is highly prevalent in the general population, many people do not seek medical advice for years, and even when they do, they may never get a referral to rheumatology, unless they had repeated blood tests with raised inflammatory markers. In the UK, the wait to get an appointment for a rheumatologist could be anywhere between one to 6 months, introducing further delays to the diagnosis, when early intervention makes such a difference in AS, as it may prevent irreversible loss of spinal function and poor long-term outcomes (Danve and Deodhar, 2019).
Despite working and specialising in rheumatology myself as a clinician and researcher and having a sneaky suspicion (!) that my diagnosis of Fibromyalgia is incorrect, it still took over 5 years and change of rheumatology consultant to get a differential diagnosis of AS. This is 5 years from my first referral to the rheumatologist, not the start of the symptoms. I have followed the NHS pathway like any patient, seeing a rheumatology consultant I was referred to, and had several blood tests, clinical examinations, and MRIs. But MRI scan did not show any anomalies and my blood tests sometimes did show raised markers and sometimes did not. I was not offered an x-ray, as the rheumatologist suggested that early changes would not be visible via the x-ray and given me a Fibromyalgia and Undifferentiated Spondyloarthropathy diagnosis. I was prescribed Amitriptyline to help with my pain. Although, this is an anti-depressant it is used for the management of pain and sleep. Although it allowed me to sleep through the night, it did not agree with me at all, lowering my mood significantly and affecting my cognition. It was impossible to be on that medication and drive to work in the morning, and able to concentrate on anything until after the later afternoon. So it was not going to do for me and after a couple of months trial I came off this medication despite my rheumatologist insisting that I should give it a 6 months. I have never been depressed before and would rather be in pain than feeling this low. So, I tried to self-manage my symptoms, following the guidelines for non-pharmacological management of Fibromyalgia. Yet, I had all the clinical symptoms of AS, with mainly suffering from backpain with some peripheral involvement on and off. Most recently, I was admitted to the A&E with suspected septic arthritis, I was very ill. Prior to this I had what felt like a full-blown flu, with clear signs of synovitis in my right hand and knee. This was ruled out; I was given initial treatment to get me back on my feet and advised to see my rheumatologist. This time my husband who also works in the field of rheumatology insisted on me seeing another consultant rheumatologist, a spine specialist, in order to get a second opinion on my diagnosis. Although I was not hopeful that I will get a different outcome/ advice, I went along with it and I am so glad that I did. Clearly, there is something in listening to what your husband says every now and then!
This time my whole experience of being seeing by a rheumatologist was different. The consultant spent 40 minutes with me taking a thorough history (I have history of JIA), conducting a clinical examination which involved taking my shoes off (my feet never got a look in before), and examining my nails (as I had some nail pitting) and straight up told me that he is pretty sure that I do not have Fibromyalgia. In addition to all other clinical indicators, his clinical examination shown that I had pain in very specific joint sites and tendons, rather than wide spread soft tissue pain. He was pretty convinced that I have AS, but he wanted to get some x-rays and blood tests done, as well as an MRI to make a definitive diagnosis. He was surprised to hear that I never had an X-Ray. To my surprise, despite spending 40 minutes examining me (my previous consultant only ever seen me for up to 10 minutes) he said that I could have the x-rays and bloods done today and then we can have a look at it together later. Which is exactly what happened. Usually my rheumatologist would refer me for an MRI and blood tests, which would take another month or two to get an appointment, and another few months to see the rheumatologist for a review. When I got back with my x-rays, he sat down with me and go through the clear signs of enthesopathy and fusion on my spine and sacroiliac joints, telling me that this confirms his initial thoughts about my AS diagnosis. The enthesopathic lesion of ankylosing spondylitis consists of a nonspecific, nongranulomatous inflammatory lesion which leads to destruction of the attachment of ligament to bone. Resulting erosion leads to reactive bone formation which may form a new enthesis and around the outer fibres of the annulus may lead to syndesmophyte formation. What determines the distribution of the enthesopathy and ankylosis is not known (Ball, 1983). He also added that if you know what you are looking for, these signs are very easy to pick up on x-ray, nevertheless there is a common misunderstanding amongst rheumatologists that the MRI is the best option to determine the early signs of AS. I was amazed to hear this, knowing how much cheaper and accessible x-rays are compared to MRI. My heart sank at the thought of added economic burden of delayed diagnosis, staff time, resource use and medical prescriptions to the NHS. Never mind the costs to the individual and their families, whilst going from one clinical appointment to another, taking time off from work, struggling along for years and years to manage their condition.
To summarise, after years of going back and forth, I have received a definitive diagnosis and a well discussed treatment plan, all in one day. Although it may sound strange to say that I am really happy, I can’t find any other words more appropriate to express how I feel. I mean, for sure it is not a happy occasion to be told that you have a potentially limiting, life long condition. But now that know what I am dealing with, I can get the most appropriate, targeted medical management as well as specific exercise programme to help my self-management. That is such a relief and gives you hope that things might get better. But I know that there are many others out there still waiting to be diagnosed, and I can but imagine how challenging this is for them, especially if they are not familiar with the diagnostic criteria and the NHS pathway, as well as me. Of course the journey for those from hard to reach populations, those with lower health literacy and/or from disadvantaged backgrounds, all together requires another blog to explore [watch this space].
Knowing what I know now about my condition, my first stop was the National Ankylosing Spondylitis Society NASS website, which consist of helpful information on how to manage AS and resources around the latest in AS research and treatment guidelines. NASS is the only UK charity entirely focused on axial SpA including AS and they have also developed a targeted exercise programme called “Back to Action” which you can follow it in your gym or at home as part of your daily routine. Which suits me fine, as I am not keen on spending time at the gym and rather exercise at home or outdoors, preferably with my dogs. NASS website includes easily accessible exercise videos and advice. Moreover, Back to Action programme is also available as an App free to download at the app store. I have already downloaded this (but of course!) and will start my new exercise programme tomorrow. I would highly recommend anyone with AS to get a NASS membership to become part of this community to take advantage of the additional benefits at a very low cost. I certainly will. Especially because I know that these funds also support important research into AS to make our lives better.
Ball, 1983. The enthesopathy of ankylosing spondylitis. Br J Rheumatol. 1983 Nov;22(4 Suppl 2):25-8.
Danve and Deodhar, 2019. Axial spondyloarthritis in the USA: diagnostic challenges and missed opportunities. Clin Rheumatol. 2019 Mar;38(3):625-634. doi: 10.1007/s10067-018-4397-3. Epub 2018 Dec 26.