Misdiagnosis, Missed Diagnosis, and Delayed Diagnosis of Lupus: A Qualitative Study of Rheumatologists.

objectiveDiagnostic 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.

methodsWe conducted 41 semistructured interviews among US 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.

resultsParticipants were 66% women, and 49% had more than10 years of postfellowship experience. Five major themes were generated, including receiving training through the lens of race or sex, the role of the documented epidemiology of SLE, pattern recognition and test-taking strategies, patient 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.

conclusionThis 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.