Clustering of clinical symptoms using large language models reveals low diagnostic specificity of proposed alternatives to consensus mast cell activation syndrome criteria.

J Allergy Clin Immunol

Institute for Immunity, Transplantation, and Infection, School of Medicine, Stanford University, Palo Alto, Calif; Department of Medicine, Center for Biomedical Informatics Research, School of Medicine, Stanford University, Palo Alto, Calif.

Published: September 2024

AI Article Synopsis

  • - The diagnosis of mast cell activation syndrome (MCAS) has risen, but while there are established consortium criteria, there are also alternative criteria that may not be as specific.
  • - Researchers used advanced language models to analyze diagnostic probabilities and found that alternative criteria led to broader and less precise diagnoses compared to the consortium criteria.
  • - The study concluded that alternative MCAS criteria result in a diverse range of diagnoses, making them less reliable and potentially leading to misclassifications when compared to established conditions like systemic lupus erythematosus.

Article Abstract

Background: The rate of diagnosis of mast cell activation syndrome (MCAS) has increased since the disorder's original description as a mastocytosis-like phenotype. While a set of consortium MCAS criteria is well described and widely accepted, this increase occurs in the setting of a broader set of proposed alternative MCAS criteria.

Objective: Effective diagnostic criteria must minimize the range of unrelated diagnoses that can be erroneously classified as the condition of interest. We sought to determine if the symptoms associated with alternative MCAS criteria result in less concise or consistent diagnostic alternatives, reducing diagnostic specificity.

Methods: We used multiple large language models, including ChatGPT, Claude, and Gemini, to bootstrap the probabilities of diagnoses that are compatible with consortium or alternative MCAS criteria. We utilized diversity and network analyses to quantify diagnostic precision and specificity compared to control diagnostic criteria including systemic lupus erythematosus, Kawasaki disease, and migraines.

Results: Compared to consortium MCAS criteria, alternative MCAS criteria are associated with more variable (Shannon diversity 5.8 vs 4.6, respectively; P = .004) and less precise (mean Bray-Curtis similarity 0.07 vs 0.19, respectively; P = .004) diagnoses. The diagnosis networks derived from consortium and alternative MCAS criteria had lower between-network similarity compared to the similarity between diagnosis networks derived from 2 distinct systemic lupus erythematosus criteria (cosine similarity 0.55 vs 0.86, respectively; P = .0022).

Conclusion: Alternative MCAS criteria are associated with a distinct set of diagnoses compared to consortium MCAS criteria and have lower diagnostic consistency. This lack of specificity is pronounced in relation to multiple control criteria, raising the concern that alternative criteria could disproportionately contribute to MCAS overdiagnosis, to the exclusion of more appropriate diagnoses.

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Source
http://dx.doi.org/10.1016/j.jaci.2024.09.006DOI Listing

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