P189 Misdiagnosis and prevalence of rheumatological diseases in early inflammatory arthritis clinic: Results from a UK single-centre retrospective cohort study

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Abstract Background/Aims Polygenic risk scores (PRS) have been developed to aid diagnosis and reduce misdiagnosis in research and limited real-world settings. However, the accuracy of these tools depends on reliable estimates of disease prevalence. This study aimed to determine the prevalence of rheumatological diseases in a real-world cohort of patients referred to a UK tertiary early inflammatory arthritis (EIA) clinic and assess the rate of misdiagnosis at first presentation and follow-up. Methods Patients with symptoms suggestive of inflammatory arthritis were referred by primary care clinicians to the EIA clinic. Rheumatologists made an initial diagnoses, initiated treatment, and revised diagnoses during follow-up. Clinical data were extracted from electronic patient records, and diagnoses were grouped into six categories: rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis, systemic lupus erythematosus, gout and other. Results Over two years, 260 patients were seen, with a mean age of 48 years (SD 16), 68% female, 55% non-white, and 41% current or former smokers. Most patients presented with peripheral joint symptoms (95%), and 23% had axial involvement. Psoriasis was present in 15%, inflammatory bowel disease in 4%, and uveitis in 4%. Ten percent received corticosteroids, and 15% started disease-modifying antirheumatic drugs. The mean CRP was 9.1 mg/L (reference range 0-5mg/L), and ESR was 18.1 mm/Hr (reference range 1-7mm/Hr). Autoantibodies were positive for CCP in 11% and rheumatoid factor in 12%. Seventeen percent (n = 43) of patients were misdiagnosed, with 7% (n = 19) initially diagnosed with one of the five most common rheumatological conditions but later found to have a non-inflammatory disorder, such as a musculoskeletal pain syndrome. Conversely, 6% (n = 16) initially received a diagnosis of an “Other rheumatological disease” but later had their diagnoses revised to one of the five most common rheumatological conditions. Conclusion Disease prevalence is context-specific, where prevalence estimates in the intended setting should be determined prior to implementation of prediction tools like PRS. In this real-world cohort, non-inflammatory diseases like chronic pain syndromes were more prevalent than in observational studies and registries. Misdiagnosis occurs in about one-fifth of patients, highlighting the potential benefits of novel diagnostic tools like PRS for earlier, more accurate diagnosis. Disclosure Z. Mobarak: None. M. Aleem: None. J. Tulloch: None. F. Saqib: None. K. Hasanein: None. A. Barton: None. P. Ho: None. R.M. Hum: Honoraria; RMH has received honoraria from Abbvie, Novartis, and UCB.

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