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Rheum for Improvement: Delayed Diagnosis of Juvenile Idiopathic Arthritis and Other Rheumatic Diseases

Writer's picture: Dr. Anna CostelloDr. Anna Costello

When patients with Juvenile Idiopathic Arthritis come to their first appointment with a pediatric rheumatologist, they and their parents often share a story of the very long diagnostic journey that they’ve undergone. Many readers of this blog probably have similar stories to share! JIA patients usually have symptoms for months to years before diagnosis, and many have seen many different doctors and specialists, trying to find an explanation for their symptoms. Sometimes they have received incorrect diagnoses of traumatic injuries and have been immobilized and restricted from sports and other activities. Others have been diagnosed with infections and treated with antibiotics. Some have had their pain dismissed by medical professionals. Many have had unnecessary and stressful tests and procedures, including sedated imaging or invasive procedures. Almost all have experienced prolonged periods of pain and limited physical function. Patients and their parents will express frustration and sadness at the long diagnostic process and losing trust in the medical system. Research has shown these delays in to be present for JIA patients across the world. A 2020 review article that reviewed 15 articles from 6 countries, showed an average time to diagnosis of 23 weeks (or about 6 months). (1)  Concerningly, many of these studies also demonstrate a population of patients for whom the delay is much longer. For example, some of my research has shown that almost a quarter of patients wait a year before diagnosis and more than 10% wait 2 years. In addition, we have evidence that up to 40% of children have findings of joint damage on the exam before they finally receive a diagnosis. 


Delayed diagnosis matters, of course, because it means that patients are suffering from symptoms and the anxiety of the unknown for longer than they need to be. However, it is also important because we have excellent medications to treat patients with JIA and patients cannot access these until they are appropriately diagnosed. Early, aggressive treatment of JIA results in better short and long-term outcomes. (2)  Shorter disease duration at diagnosis has also been associated with a higher likelihood of clinically inactive disease and a longer duration. (3) Specialty guidelines have suggested that we should aim to diagnose patients with JIA within 10 weeks of symptom onset, and the data we have shows that we are falling far short of this goal for many of our patients! There is certainly some “rheum” for improvement!


There is still a lot to understand about this topic. The information we have so far suggests that patients and their parents are seeking care, but it is taking a long time for doctors to recognize the diagnosis and appropriately refer to rheumatology. In the United States, where I practice, there is no published data about what types of doctors patients see before diagnosis or what they are diagnosed with. This information will be critical to helping us design interventions to improve the diagnostic process for these patients. My team is working on several projects to start unravelling this question by performing detailed chart reviews, interviewing patient families, and analyzing insurance data. I hope that this data will help us better understand where the diagnostic process is failing so we can work to improve it. 


While I am studying diagnostic delays in JIA, these delays have also been demonstrated for adults with rheumatic diseases and for children with other rheumatic diseases. For example, patients with childhood lupus and Juvenile Dermatomyositis have both been found to experience significant delays in diagnosis. (4, 5) I hope that as we start to better understand the factors that lead to delayed diagnosis of JIA and start to design interventions to improve the time to diagnosis, some of this work may also be applied to other autoimmune diseases.


I would love to hear your thoughts in the comments! What was your diagnostic journey like? What made it go well or poorly? If you’re interested in this work or sharing your experience, don’t hesitate to reach out! 


  1. Chausset A, Pereira B, Echaubard S, Merlin E, Freychet C. Access to paediatric rheumatology care in juvenile idiopathic arthritis: what do we know? A systematic review. Rheumatol Oxf Engl. 2020;59(12):3633-3644. doi:10.1093/rheumatology/keaa438 

  2. Minden K, Horneff G, Niewerth M, et al. Time of Disease-Modifying Antirheumatic Drug Start in Juvenile Idiopathic Arthritis and the Likelihood of a Drug-Free Remission in Young Adulthood. Arthritis Care Res. 2019;71(4):471-481. doi:10.1002/acr.23709 

  3. Wallace CA, Giannini EH, Spalding SJ, et al. Clinically inactive disease in a cohort of children with new-onset polyarticular juvenile idiopathic arthritis treated with early aggressive therapy: time to achievement, total duration, and predictors. J Rheumatol. 2014;41(6):1163-1170. doi:10.3899/jrheum.131503 

  4. Neely, J.; Shalen, J.; Sturrock, H.; Kim, S. Access to Care and Diagnostic Delays in Juvenile Dermatomyositis: Results From the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. ACR Open Rheumatol 2021, 3 (5), 349–354. https://doi.org/10.1002/acr2.11246.

  5. Rubinstein, T. B.; Mowrey, W. B.; Ilowite, N. T.; Wahezi, D. M. Delays to Care in Pediatric Lupus Patients from the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. Arthritis Care Res (Hoboken) 2018, 70 (3), 420–427. https://doi.org/10.1002/acr.23285.

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