Introduction

Axial spondyloarthritis (axSpA) is an autoimmune inflammatory arthritis predominantly affecting the sacroiliac joints and spine, sometimes with additional articular and extra-articular involvement [1]. AxSpA is commonly characterised by chronic low back pain, fatigue, and reduction in mobility/physical function [1], all of which can impact on physical, psychological, and social wellbeing, including work roles and personal relationships [2].

Delay in the diagnosis of axSpA is common, typically between 2 and 5 years globally [3]. Such delay can result in more progressive disease, reduced response to treatment and poorer patient outcomes [2, 4]. Although many population-level [3] and electronic health record [5,6,7,8] studies have tried to identify factors associated with delayed axSpA diagnosis, there is still limited understanding of the factors that contribute to this delay [9].

Several studies have investigated aspects of the axSpA diagnostic journey and their effect on and interplay with diagnostic delay from the perspectives of the patient or healthcare professionals’ (HCPs) [10,11,12,13,14]. Results concurred that levels of awareness and understanding of axSpA in the public and healthcare spheres were lacking, and systemic healthcare problems and difficulties diagnosing the disease existed. However, only one study was based in the United Kingdom (UK), with its distinct healthcare structure and did not collect information from HCPs [10], a key partner in supporting the patient to achieve a final diagnosis. Furthermore, Martindale et al. did not primarily examine the effect on delay of aspects of the diagnostic process but explored delay as a modifier and intensifier of issues encountered along the diagnostic journey.

To consider how delay can be reduced, it is necessary to identify and fully understand the challenges involved in the diagnostic process. This study explored the experiences and perceptions of patients with axSpA and HCPs regarding the barriers and facilitators affecting the timely diagnosis of axSpA.

Methods

The theoretical framework underpinning this work is phenomenology [15]. Phenomenological research is focussed on understanding the meaning of an experience from an individual’s perspective [16]. The use of semi-structured interviews aided the exploration of diagnostic delay by enabling the participants to share their experiences. The reporting of this study is based on the Consolidated Criteria for Reporting Qualitative Health Research (COREQ) [17] (Supplementary Table 1). Ethical approval was obtained from the NHS Health Research Authority on 11/08/2020 (IRAS project ID 262371).

Participants were identified based on the following criteria: ≥ 18 years of age from across the UK, with a diagnosis of axSpA after 2009, the year that the Assessment of Spondyloarthritis International Society (ASAS) axSpA classification criteria were introduced [18, 19]. ASAS is a widely accepted classification criteria for axSpA and underpins the UK National Institute for Health and Care Excellence (NICE) guidelines for diagnosis [20]. Participants were recruited through multiple routes, including a local rheumatology centre, social media (Twitter, now X) [21] and a national patient charity (National Axial Spondyloarthritis Society (NASS)) [22]. Diagnosis was self-reported. Possible participants were excluded if they possessed cognitive impairments which would preclude the level of conversational involvement required by this study. In Addition, potential participants were excluded if they did not possess a level of comprehension and use of English. HCPs working in the UK who had experience in the management of patients with axSpA were recruited opportunistically through a snowball sampling technique beginning with known contacts within local organisations. To be included in the study, HCPs had to have previously been involved in the diagnosis, management, or treatment of axSpA in the NHS. In addition to a lack of exposure to axSpA, the only other exclusion criterion was if they were unavailable to take part in the study during the study timeframe.

All participants took part in one semi-structured interview with the same interviewer (CH) between August 2020 and March 2021. The interviewer undertook the interviews during his PhD studies and had received qualitative research training from Keele University and Oxford University; he had no prior relationship with the patient interviewees, but a proportion of the HCP participants were previously known. Patients with axSpA were interviewed via telephone and HCPs were interviewed via telephone/Microsoft Teams. The interviews were digitally recorded, transcribed verbatim and pseudo-anonymised. Separate topic guides were produced for the patient and HCP interviews (Supplementary file 2). Patients with a diagnosis of axSpA from the local NASS group (n = 6) formed our Patient and Public Involvement and Engagement (PPIE) group. The PPIE members assisted in the development of the topic guides, along with other patient facing documentation, such as information sheets and consent forms. Both topic guides focussed on participants’ experience, knowledge, and perceptions of the journey to axSpA diagnosis and went through an iterative process of drafting, acting on suggested edits and comments from our PPIE members.

Analysis

Thematic analysis [23], undertaken using NVivo12 (QSR International) [24], was used as an exploratory method by which patient and HCP experiences and perceptions of the diagnostic journey could be understood. Within-participant analysis was undertaken by two members of the research team (CH & SR) before looking for patterns across participants. Each transcript was read repeatedly to ensure familiarisation with the data and to identify codes, themes, and categories from the interviews. The method of analysis was based on that described by Braun and Clarke [25], iterated upon in 2019, and described in full in Supplementary File 3.

Information power [26] (a means of attempting to judge the likelihood that sample size and data-collection quality are sufficient to deliver results which substantially answer a research question) was judged based on the characteristics of the present study (aim of the study, sample specificity, use of theory, quality of dialogue and analysis strategy). Comparing with recent studies which interviewed patients [10] and GPs [12], the target sample sizes of this current study had credible information power.

Results

Fourteen patients with axSpA from the UK were recruited (ten female, four male). Median age was 43 years (range 24–59), median age of first symptom onset was 20 years (range 11–30), median age of diagnosis was 39.5 years (range 20–53) and the median delay to diagnosis was 15.5 years (range 1–20 years) (Supplemental 4). Patient interviews ranged between 50 min and 1 h 12 min. Fourteen UK-based HCP were recruited, comprising of 5 physiotherapists, 4 GPs, 3 rheumatologists, a nurse, and an occupational therapist. The frequency with which HCPs interacted with patients with known/suspected axSpA, ranged widely from 3 to 280 per year (Supplemental 5). HCP interview length ranged from 39 min to 1 h 35 min.

The patient perspective of barriers to diagnosis

Five themes were identified from patient interviews regarding barriers of diagnosis: patient/HCP interactions, the difficulties in diagnosing axSpA, patient behaviour, lack of public and healthcare awareness of axSpA and sub-optimal practice in healthcare. Each theme and its related data are described in Table 1.

Table 1 The patient perspective of barriers to diagnosis
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Patient/HCP interaction

The majority of patients described communication with HCPs as a barrier to diagnosis. Patients felt they had been overly deferential in consultation and had not sought recognition that they may have something more serious than was being implied. They found HCPs could be dismissive of the symptoms they were experiencing.

AxSpA is difficult to diagnose

For many patients the difficulty in diagnosing their disease led to delayed diagnosis. Many attributed the presentation of their symptoms as a reason for their axSpA being difficult to diagnose, suspecting that if early symptoms were not predominantly around the lower back or pelvis, then any suspicion for axSpA was not raised until later in the disease development. Symptoms were often also labelled as being caused by strain and sports injury, which led to a lack of suspicion of the disease. In Addition, even when patients were investigated using imaging, their results were sometimes not sufficiently conclusive to lead naturally towards a diagnosis of axSpA.

Patient behaviour

Two aspects of patient behaviour which influenced the delay in diagnosis were stoicism regarding symptoms and low confidence in healthcare services to manage their condition. Patients’ tendency to ignore symptoms was partially influenced by previous unsatisfactory consultations with HCPs.

Lack of awareness of axSpA

Delay was perceived to be related to the lack of general awareness of axSpA both by the public and healthcare professionals. This encompassed an incomplete understanding of the disease, its characteristics, and its impact. Some female patients, for example, were told their symptoms were not axSpA because their GP was under the incorrect apprehension that axSpA is a predominantly male disease.

Sub-optimal practice in healthcare

The configuration of healthcare services and the duration of consultations was seen as sub-optimal, with the process of referral to a rheumatologist often perceived to be a cause of delay. Referral was a slow and complex process with ill-defined steps and outcomes, which often resulted in the patient being reviewed by different specialities with little rationalisation. Many patients found consultations were too short to explain their symptoms and this reduced the likelihood of symptom recognition occurring and the possible diagnosis of axSpA being made.

The patient perspective of facilitators of diagnosis

Five themes related to facilitators of diagnosis were identified from patient interviews, these were: patient behaviour and advocacy, patient characteristics, good practice in healthcare, education and awareness, and serendipity (Table 2).

Table 2 The patient perspective of facilitators of diagnosis
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Patient advocacy

Two forms of patient advocacy were proposed as a means towards facilitating a diagnosis of axSpA:

  1. 1)

    Self-advocacy, i.e. patients pushing for further investigation into their symptoms and not accepting what they felt to be unhelpful outcomes of consultation.

  2. 2)

    Advocacy by another, such as support in the consultation of a friend or family member, or by a charity or affiliated organisation.

Patients’ characteristics

Patients described the symptoms and circumstances which initiated a consultation including unbearable pain and the increasing impact of their symptoms on normal life, while others were encouraged to see a doctor by people around them who had become increasingly concerned. These events, described as triggers, started the patients’ process towards diagnosis.

Good practice in healthcare

Good practice in healthcare which assisted the process towards diagnosis included symptom awareness in HCPs and well executed history taking, leading to appropriate referral (as opposed to continuing unhelpful symptomatic treatment without referral).

Education and awareness

Patients perceived that improving the public visibility of axSpA would increase the likelihood of quicker diagnosis, as would education programs in healthcare. The resultant lower threshold for suspicion of pain being caused by inflammation, along with reduced ambiguity when discussing the disease could reduce a delay.

Serendipity

Several patients attributed their diagnosis to a single, seemingly arbitrary occurrence or coincidence, as opposed to a systematic journey through healthcare.

The healthcare professional perspective of barriers to diagnosis

Five themes relating to barriers to diagnosis were identified in interviews with HCPs: axSpA being difficult to diagnose, the lack of public and healthcare awareness of axSpA, sub-optimal practice in healthcare, patient behaviour and characteristics, and patient/HCP interaction (Table 3).

Table 3 The healthcare professional perspective of barriers to diagnosis
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AxSpA is difficult to diagnose

HCPs felt the difficulty of diagnosing axSpA was one of the main causes of delayed diagnosis. Two closely related sub-themes arose in this area of conversation:

  1. 1)

    AxSpA is difficult to define and differentiate, as many symptoms can overlap with other diseases and conditions, including fibromyalgia and mechanical musculoskeletal issues.

  2. 2)

    The outcomes of investigations into possible axSpA are not always clear, often requiring time and repetition before any degree of certainty can be attained.

Lack of awareness of axSpA

A lack of awareness of axSpA in patients and the general public was stated by many as a possible reason for delay in seeking consultation for their symptoms. In Addition, the majority of HCPs identified the lack of awareness of axSpA in healthcare as a cause of delay.

Sub-optimal practice in healthcare

It was frequently felt that the organisation of the healthcare system itself was a cause of diagnostic delay. The main problems identified were insufficient time for consultations, a lack of guidance and resources, and problems relating to referral and the ‘revolving door’ nature of healthcare, i.e. patients being bounced between departments to little productive end.

Patient behaviour and characteristics

HCPs observed that patients delayed presenting with their symptoms or absented themselves from healthcare for extended periods of time. This both intrinsically led directly to delay in diagnosis and also made continued investigation and observation far more difficult. It was also observed that where patients were ostensibly coping or able to attend work, they often did not consult regularly for their symptoms.

Patient/HCP interactions

HCPs described how patients found it difficult to articulate their symptoms in a way that created a clear picture. For example, there was a common conflation of describing pain and stiffness, where separating these two concepts may give a more accurate and useful understanding of a patient’s condition. HCPs also felt that there is an issue of dismissiveness among HCPs, partially caused by pain being such a common complaint and partially as some patients reconsult repeatedly with the same complaint leading to reduce receptivity from their doctor.

The healthcare perspective of facilitators of diagnosis

Regarding facilitators of diagnosis of axSpA, four themes were identified from interviews with HCPs: promoting awareness of the disease in primary care and the general public, symptoms and characteristics that could raise suspicion of axSpA, improvements to practice in healthcare, and improved patient/HCP interactions (Table 5).

Promoting awareness of axSpA

HCPs identified the different ways that awareness of axSpA, could be promoted including via national charities, in hospital waiting rooms, in GP surgeries and through public campaigns.

In primary care there was recognition of the need to improve the education of GPs and AHPs and provide consultation tools to aid diagnosis.

Symptoms and characteristics that could raise suspicion of axSpA

All HCPs listed symptoms and characteristics of patients that would indicate a clinical suspicion of axSpA, tabulated below by order of frequency (Table 4). It was felt that if these were widely noticed in concert, suspicion could more readily be increased that a patient’s pain might be inflammatory in character, raising the possibility of axSpA.

Table 4 Suspicion-raising characteristics mentioned by number of HCPs
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Improving practice in healthcare

Clarifying the referral process for patients and improving the referral time were both seen as important ways of reducing diagnostic delay. Several HCPs felt that the availability of first contact physiotherapists at the beginning of clinical presentation might reduce diagnostic delay by allowing for a more detailed consultation. In Addition, HCPs using a focussed sets of exploratory questions could be employed when there is a clinical suspicion of inflammatory pain could improve the diagnosis of axSpA.

Improving patient/HCP interactions

Improving the effectiveness of interactions between patients and HCPs was seen to have scope to facilitate faster diagnosis of axSpA. Being open to patient input regarding their own symptoms and possible diagnosis was viewed as being important (Table 5).

Table 5 Healthcare perspective facilitators of diagnosis
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Discussion

This study explored barriers and facilitators to the diagnosis of axSpA from the perspectives of both patients with axSpA and HCPs. Regarding barriers to diagnosis, there was a notable concordance between patients with axSpA and HCPs regarding; ineffective communication, difficulties diagnosing axSpA, sub-optimal practice in healthcare, lack of awareness and comprehension of the disease and patient behaviours. There was some agreement regarding facilitators of diagnosis, such as education and awareness campaigns, positive communication, and patient advocacy, improving referral pathways and identifying means of raising suspicion of inflammatory arthritis earlier (Box 1). One divergence between the two groups regarding facilitators is that some patients regarded “serendipity” as having facilitated their diagnosis, reflecting the position that the healthcare system may not be identifying patients systematically in its current arrangement.

Box 1 Top level themes
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All participants were aware of the difficulty of differentiating between axSpA and other conditions which can cause similar symptoms, including osteoarthritis and fibromyalgia. Lack of awareness in HCPs was perceived to cause greater delay compared to low awareness in the general public. Low awareness of axSpA in Dutch GPs, contributed to missing many possible cases [12]. It may also be the case that low awareness and understanding of the disease feeds into many of the issues of communication; if a GP is unable to link the associations within a collection of interacting symptoms, they may focus on the most obvious, such as pain. This understandable approach reflects the high frequency of pain encountered in community healthcare, with only a comparatively low proportion being caused by axSpA [27]. In this study the lack of further exploration/investigation can be perceived by the patient as dismissal, and GPs can perceive the patient’s persistence as an inconvenience rather than a suggestion of recurrent symptoms; these findings are not unique and have previously been described in research exploring GP consultations [28].

Education and awareness of axSpA was seen by many patients and HCPs to be an important means of reducing diagnostic delay. Since 2013, the National Rheumatoid Arthritis Society (NRAS) [29] have coordinated the Rheumatoid Arthritis Awareness Week, with the aim of increasing awareness of rheumatoid arthritis [30]. The National Axial Spondyloarthritis Society’s (NASS) ‘Act on axial SpA’ campaign is currently focussed on increasing awareness of axSpA with the aim of reducing time to diagnosis; it utilises the acronym “SPINE” as a means of quickly conveying core concepts of axSpA: Symptoms starting slowly, Pain in the lower back, Improves with movement, Night time waking, Early onset [31]. However, this program was only launched recently, so quantifiable benefits have yet to be shown.

Specific education of HCPs would need to focus on three key areas: First, to be cognisant of communication style, such as outlined by NHS England in 2021 [32]; Secondly, not to ignore musculoskeletal pain in younger people, as it might be significant of something more complex. Thirdly, a family history of SpA is more common among people with axSpA [33], as is uveitis [34], psoriasis [35] and inflammatory bowel disease [36]. As primary healthcare is characterised by extreme time and financial pressures [37], any education would need to compliment and not increase workload demands.

Several HCPs felt that a simple set of questions based on the presence of factors more specific to axSpA, such as stiffness in the morning, waking in the second half of the night with pain, and buttock pain would be a useful diagnostic tool. Baraliakos et al. [38] in 2020 described using a short series of questions/investigations to identify individuals with potential axSpA requiring specialist review, as a refinement to Braun et al. [39], which comprise the current axSpA screening in NICE guidelines [20]. However, the Baraliakos referral strategy requires validation in an independent cohort and has not been tested in a UK population. In Addition, due to limitations in the sample size, there are residual questions regarding sensitivity and specificity of the described factors’ predictive capabilities.

Advocacy for patients with axSpA was an important factor contributing towards instigating the process of diagnosis; by taking friends and family to consultations to provide emotional support and assisting with communication with HCPs. Self-advocacy was strongly espoused by some patient participants, by being assertive in communications with clinicians. Many patients with axSpA found the most helpful HCPs were often the ones willing to acknowledge when they had reached the bounds of their knowledge and would seek further opinions or refer the patient. HCPs who didn’t underestimate the patients’ symptoms or those who displayed a pro-active attitude to problem solving were described in positive terms by patients. Patient advocacy has been described elsewhere as an essential facilitator of diagnosis, not just as an aid to communication, but also to ensure the patient felt they were consulting with an HCP who met their information and care needs [11]. One possible practical aid to patients’ self-advocacy and communication with their HCP would be easily accessible and understandable written material available in different formats (online/offline) which could give patients a guide on how to maximise the effectiveness of their consultation.

The fact that many patients with axSpA credited the success of their diagnosis to serendipity may be related to several possible factors. The first is that as this study recruited most of its patient participants through social media and respondents to NASS newsletter advertisements, there may be a selection bias towards individuals with more dramatic experiences. Another possibility is that serendipity, as presented by the participants of this study, is an artefact of post-hoc narrative creation, in which it played less of a genuine part in diagnosis than was represented. A final possibility is that patients who experience longer delays are comparatively more likely to experience chance encounters/circumstances which lead to diagnosis. Serendipity or serendipity as facilitators are not commonly referenced in scientific literature, possibly due to their relative unquantifiability, but are not entirely absent. One study into pathways of care and diagnosis for children with vascular malformations presents serendipity as a facilitator of diagnosis, specifically linking it to knowing or encountering specific individuals [40]. In the present study, this definition holds; patients who felt serendipity facilitated their diagnosis often described chance encounters with people who were able to identify their symptoms.

The findings of this study have some notable implications for clinical practice. Awareness and understanding of axSpA needs to improve within the healthcare system and among the general public, as does communication with patients. In Addition, the time from first primary care consultation and referral to secondary care needs to reduce, and the process of referral clarified. Not only would this streamline diagnosis, but it may also keep patients more motivated to actively seek diagnosis of their own volition. Martindale et al. [10] found, as with the present study, that patients described poor interactions with healthcare as a factor that demotivated them in their search for answers about their symptoms.

Many participants stated they felt the time available for GP consultations was insufficient to communicate their symptoms effectively. Unfortunately, while increasing the time of GP consultations is desirable, it may not be realistic due to pressures on the UK healthcare system. However, as back pain is increasingly being managed by primary care-based physiotherapists this service could be leveraged to improve early consultations [41]. Where implementation of first contact physiotherapists (FCPs) has been undertaken, results have been encouraging, with patients showing high confidence in FCPs [42]. In Addition, the majority of patients who see an FCP do not then need a repeat consultation with their GP, demonstrably reducing the burden on GPs [42]. Underpinning all these points is the need for greater education for HCPs regarding axSpA.

The main strength and novelty of this study is that it is the first qualitative study in the UK to collect data in parallel, from both patients with axSpA and HCPs, regarding barriers and facilitators in diagnosing axSpA. The results show a consensus between patients and HCPs on the need to improve prompt diagnosis. A limitation of this work relates to the composition of the sample, which included more women than men. Though this may influence aspects of our results, this imbalance is perhaps not surprising when women have traditionally experienced more delay due to misunderstanding of their disease [43]. Future research will benefit from including a better balance of male and female patients as it has been noted that the disease does manifest in and affect sexes differently [43]. Disease presentation and experiences throughout the patient sample were highly varied, meaning that while a wide range of experiences were represented, the potential for external validation is limited. Socioeconomic status and ethnicity were not recorded in this study, and both could influence the experience of the disease. Furthermore, the relatively small size and heterogeneity of the HCP sample, while representing a cross-section of healthcare, may also limit the extent to which the findings of this study can be externally validated. Future research in this area with purposive sampling for greater diversity would reflect the views of a wider section of the populace.

Conclusion

This study has identified the need to improve patient and HCP education and raise the awareness of axSpA. In Addition, improving the quality of interaction at initial contact with healthcare through patient advocacy, effective communication (including active listening and admitting when a solution is elusive and needs further input) and utilisation of primary care physiotherapists may help alleviate avoidable delay. Finally, clearer identified referral pathways that are quick and effective to use are necessary to reduce the “bouncing about” between services experienced by patients, therefore reducing diagnostic delay for axSpA.