Misdiagnosis, missed diagnosis and delayed diagnosis of lupus: A qualitative study of rheumatologists.

Diagnostic errors in outpatient settings lead to significant consequences, especially in rare diseases such as systemic lupus erythematosus (SLE). A recent vignette-based experimental study revealed that demographic factors influenced rheumatologists' diagnoses of SLE, raising concerns about potential diagnostic biases. We conducted a qualitative study to contextualize these results to generate insights about diagnostic challenges and biases, and root causes. We conducted 41 semi-structured interviews among U.S. rheumatologists. Transcripts were independently coded by at least two coders using a hybrid deductive-inductive approach and thematic analysis. A team of four researchers reviewed and defined themes collectively, and also resolved any discrepancies. Participants were 66% women and 49% had >10 years of post-fellowship experience. Five major themes were generated, including receiving training through the lens of race or gender, the role of the documented epidemiology of SLE, pattern recognition and test-taking strategies, case vignettes as an imperfect proxy for patient interactions, and varied consequences to patients from diagnostic bias. Participants noted that the consequences of diagnostic bias could include progressed disease from delayed diagnosis, unnecessary and inappropriate treatment due to missed diagnosis or misdiagnosis, and increased cost and harm. This study underscores the unique challenges of diagnosing SLE, with complex factors contributing to diagnosis bias and delays. Interventions during medical education could prevent downstream diagnostic biases. Future research should explore interventions to mitigate diagnostic bias and refine vignettes to better mirror real-world clinical scenarios. Understanding diagnostic bias in SLE is crucial for improving patient outcomes and refining medical training practices.

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