Comorbidity analysis and clustering of endometriosis patients using electronic health records.

Khan, Umair; Oskotsky, Tomiko T; Yilmaz, Bahar D; Roger, Jacquelyn; Gjoni, Ketrin; Irwin, Juan C; Opoku-Anane, Jessica; Elhadad, Noémie et al. · Cell Rep Med · 2025

case_control · Level III

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Abstract

Endometriosis is a prevalent, complex, inflammatory condition associated with a diverse range of symptoms and comorbidities. Despite its substantial burden on patients, population-level studies that explore its comorbid patterns and heterogeneity are limited. In this retrospective case-control study, we analyze comorbidities from over forty thousand endometriosis patients across six University of California medical centers using de-identified electronic health record (EHR) data. We find hundreds of conditions significantly associated with endometriosis, including genitourinary disorders, neoplasms, and autoimmune diseases, with strong replication across datasets. Clustering analyses identify patient subpopulations with distinct comorbidity patterns, including psychiatric and autoimmune conditions. This study provides a comprehensive analysis of endometriosis comorbidities and highlights the heterogeneity within the patient population. Our findings demonstrate the utility of EHR data in uncovering clinically meaningful patterns and suggest pathways for personalized disease management and future research on biological mechanisms underlying endometriosis.

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