Diagnostic errors in uncommon conditions: a systematic review of case reports of diagnostic errors
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Yukinori Harada
,
Takashi Watari
,
Tetsuro Aita
Abstract
Objectives
To assess the usefulness of case reports as sources for research on diagnostic errors in uncommon diseases and atypical presentations.
Content
We reviewed 563 case reports of diagnostic error. The commonality of the final diagnoses was classified based on the description in the articles, Orphanet, or epidemiological data on available references; the typicality of presentation was classified based on the description in the articles and the judgment of the physician researchers. Diagnosis Error Evaluation and Research (DEER), Reliable Diagnosis Challenges (RDC), and Generic Diagnostic Pitfalls (GDP) taxonomies were used to assess the factors contributing to diagnostic errors.
Summary and outlook
Excluding three cases in that commonality could not be classified, 560 cases were classified into four categories: typical presentations of common diseases (60, 10.7 %), atypical presentations of common diseases (35, 6.2 %), typical presentations of uncommon diseases (276, 49.3 %), and atypical presentations of uncommon diseases (189, 33.8 %). The most important DEER taxonomy was “Failure/delay in considering the diagnosis” among the four categories, whereas the most important RDC and GDP taxonomies varied with the categories. Case reports can be a useful data source for research on the diagnostic errors of uncommon diseases with or without atypical presentations.
Acknowledgments
This study was conducted as an academic work by the Japan Diagnostic Excellence (JDX) team of the Japanese Society of Hospital General Medicine. We thank Professor Gordon D. Schiff for his intellectual support in the interpretation of DEER, RDC, and GDP.
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Research ethics: Not applicable.
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Informed consent: Not applicable.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
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Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/dx-2023-0030).
© 2023 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Reviews
- Diagnostic errors in uncommon conditions: a systematic review of case reports of diagnostic errors
- Routine blood test markers for predicting liver disease post HBV infection: precision pathology and pattern recognition
- Opinion Papers
- The challenge of clinical reasoning in chronic multimorbidity: time and interactions in the Health Issues Network model
- The first diagnostic excellence conference in Japan
- Clouds across the new dawn for clinical, diagnostic and biological data: accelerating the development, delivery and uptake of personalized medicine
- Original Articles
- Towards diagnostic excellence on academic ward teams: building a conceptual model of team dynamics in the diagnostic process
- Error codes at autopsy to study potential biases in diagnostic error
- Multicenter evaluation of a method to identify delayed diagnosis of diabetic ketoacidosis and sepsis in administrative data
- Detection of fake papers in the era of artificial intelligence
- Is language an issue? Accuracy of the German computerized diagnostic decision support system ISABEL and cross-validation with the English counterpart
- The feasibility of a mystery case curriculum to enhance diagnostic reasoning skills among medical students: a process evaluation
- Internal medicine intern performance on the gastrointestinal physical exam
- Scaling up a diagnostic pause at the ICU-to-ward transition: an exploration of barriers and facilitators to implementation of the ICU-PAUSE handoff tool
- Learned cautions regarding antibody testing in mast cell activation syndrome
- Diagnostic properties of natriuretic peptides and opportunities for personalized thresholds for detecting heart failure in primary care
- Incomplete filling of spray-dried K2EDTA evacuated blood tubes: impact on measuring routine hematological parameters on Sysmex XN-10
- Letters to the Editor
- The diagnostic accuracy of AI-based predatory journal detectors: an analogy to diagnosis
- Explainable AI for gut microbiome-based diagnostics: colorectal cancer as a case study
- Restless X syndrome: a new diagnostic family of nocturnal, restless, abnormal sensations of various body parts
- Erratum
- Retraction of: Establishing a stable platform for the measurement of blood endotoxin levels in the dialysis population
