In this study, we described the journey to receiving a diagnosis of AS from the patient perspective by examining differences by sex and by time to diagnosis via a web-based survey. Respondents with a shorter time to diagnosis were more likely to seek medical attention due to back pain, joint pain, swollen joints, and difficulty breathing, whereas respondents with a longer time to diagnosis reported first seeking medical treatment after experiencing foot problems, neck pain, difficulty walking, uveitis, tendon or ligament pain, and pelvic pain. The manifestation of more “typical” axial AS symptoms (e.g., back pain and joint pain) may be instrumental in the timely diagnosis of the disease; respondents with these symptoms had a quicker time to diagnosis compared with respondents manifesting symptoms such as foot problems, neck pain, and pelvic pain.
Women with AS in our study were significantly more impacted by pain, fibromyalgia, and fatigue compared with men. The severity and symptoms of AS, along with pain and fatigue, were reported to be the primary contributors to impairment of patient quality of life [20], and as such, pain and fatigue management are critical in improving the physical, social, and psychological aspects of AS [21]. On the other hand, a significantly higher proportion of men with AS reported hypertension compared with women. Sex differences as observed in our analysis have been discussed in other studies, highlighting that women may manifest AS differently than men due to different immunologic [22, 23] and genetic [24, 25] responses to the disease. Additionally, enthesitis [26,27,28] and disease severity [29, 30] were significantly more pronounced in women with AS compared with men in several studies [29,30,31,32]. Compared with men with AS, women also experienced a significantly lower quality of life [26, 30] and greater delay in receiving an AS diagnosis [11, 33]. With regard to symptom presentation, one study documented that men reported experiencing inflammatory back pain more frequently than women, whereas women reported more pelvic, heel, and widespread pain during the course of the disease; at the time of diagnosis, men had more limited chest expansion and had increased occiput-to-wall distance compared with women [34]. In a 5-year prospective study of spinal radiographic progression in AS, high levels of C-reactive protein and smoking were reported as predictors of progression in men [35].
Fewer than half of respondents (37.1%) received an AS diagnosis within 1 year of seeking medical attention, and 32.8% of respondents waited more than a decade to receive the diagnosis. Overall, respondents began seeking treatment due to pain, stiffness, and fatigue, and most consulted with general practitioners for a diagnosis. During this period of diagnosis delay, patients may report feeling adrift and confused in efforts to understand and legitimize the challenges and difficulties in various aspects of their lives due to AS [5]. As this journey toward diagnosis becomes prolonged, there is an increased impact of the disease, leading to poor quality of life and overall frustration toward the providers’ inability to recognize the condition; patients may pay a “psychological price” for this journey [5]. A delay in diagnosis and subsequent treatment contribute to the economic, physical, and psychological burden on patients and their caregivers [2, 36]. Consequences of delayed diagnosis include prolonged pain, depression, stiffness, severe hip disease, and fatigue, along with the potential loss of spinal mobility and function [37,38,39,40,41].
Misdiagnoses were also common among respondents with AS in this study. Back problems (44.3%) and psychosomatic disorders (36.2%) were the most common misdiagnoses reported; interestingly, fibromyalgia was more commonly reported as a comorbid condition among patients with shorter times to diagnosis, whereas patients with longer times to diagnosis were more likely to be misdiagnosed with fibromyalgia (among other conditions). Significantly higher proportions of women than men reported misdiagnoses of psychosomatic issues and fibromyalgia in our study. Several studies have reported the coexistence of fibromyalgia in patients with AS [42, 43], and another study documented the increased prevalence of fibromyalgia among women with AS [44]. In efforts to increase the awareness and education of referring providers, such as primary care physicians and dermatologists, to reduce or prevent delayed diagnoses and misdiagnoses, various referral strategies have been suggested [45].
Earlier recognition of symptoms associated with AS may help to reduce the number of misdiagnoses, shorten the time to diagnosis of AS, and lead to improved care and health-related quality of life. Predictors and/or prognosticators of delayed diagnosis have been documented. Features such as uveitis, enthesitis, HLA-B27 expression, and metrics of disease severity, disease activity, and quality of life such as the Bath Ankylosing Spondylitis Functional Index, Bath Ankylosing Spondylitis Disease Activity Index, and AS Quality of Life have been documented as predictors or correlates of delayed AS diagnosis [39, 46,47,48]. Upon the receipt of a diagnosis, patients with AS reported a sense of empowerment as they began to accept and understand the circumstances and seek treatment; they reported feeling relief even though they knew there was no cure for the disease [5]. One of the primary hurdles for the identification and referral of patients with AS is the high prevalence of chronic back pain within the population [2]. The median delay from time of back pain diagnosis to rheumatologist referral was approximately 10 months; after a rheumatology consultation, patients were diagnosed with AS within 1 month; predictors of quicker referral included younger age, male sex, presence of uveitis, use of prescription drugs and X-ray imaging, and primary care as the referring physician specialty [2]. Thus, increased awareness of AS and education of signs and symptoms of AS among primary care specialties may contribute to timely rheumatology referral and ultimately accurate AS diagnosis.
Our results should be interpreted in the context of limitations inherent to all patient surveys. Patient perspectives may be subject to the patients’ bias and experience. Respondents participating in the study were participating in an online community and may be more likely to take part regularly in research studies and, thus, may have had greater interest in managing their disease. Our study included a higher proportion of women than is typically observed with AS; although AS is generally a male-dominant disease [49], women are typically more active online [50]. The study relied on patients’ self-report of diagnosis of AS, which may lead to under- or overrepresentation of reporting of symptoms; clinician-reported confirmation of diagnosis was not obtained. However, the majority of respondents in this study were using biologic therapies, contributing to the validity of the diagnoses.
In conclusion, this study showed that respondents with AS sought medical help from various types of healthcare providers in their journey to obtain a diagnosis of AS and confronted diagnosis delays and misdiagnoses. Enhanced awareness of AS symptoms, particularly in nonrheumatology settings, and overcoming diagnosis obstacles may expedite referrals to rheumatologists. A timely AS diagnosis and subsequent disease management may improve disease outcomes and increase the quality of life of patients with AS.