Prevalence of atypical presentations among outpatients and associations with diagnostic error

This study aimed to assess the prevalence of atypical presentations and their association with diagnostic errors in various diseases.

This retrospective observational study was conducted using cohort data between January 1 and December 31, 2019. Consecutive outpatients consulted by physicians from the Department of Diagnostic and Generalist Medicine at a university hospital in Japan were included. Patients for whom the final diagnosis was not confirmed were excluded. Primary outcomes were the prevalence of atypical presentations, and the prevalence of diagnostic errors in groups with typical and atypical presentations. Diagnostic errors and atypical presentations were assessed using the Revised Safer Dx Instrument. We performed primary analyses using a criterion; the average score of less than five to item 12 of two independent reviewers was an atypical presentation (liberal criterion). We also performed additional analyses using another criterion; the average score of three or less to item 12 was an atypical presentation (conservative criterion).

A total of 930 patients were included out of a total of 2022 eligible. The prevalence of atypical presentation was 21.7 and 6.7 % when using liberal and conservative criteria for atypical presentation, respectively. Diagnostic errors (2.8 %) were most commonly observed in the cases with slight to moderate atypical presentation. Atypical presentation was associated with diagnostic errors with the liberal criterion for atypical presentation; however, this diminished with the conservative criterion.

An atypical presentation was observed in up to 20 % of outpatients with a confirmed diagnosis, and slight to moderate atypical presentation may be the highest risk population for diagnostic errors.