Large-scale identification of undiagnosed hepatic steatosis using natural language processing

作者：Carolin V. Schneider, Tang Li, David Zhang, Anya Mezina, Puru Rattan, Helen Huang, Kate Townsend Creasy, Eleonora Scorletti, Inuk Zandvakili, Marijana Vujković, Leonida Hehl, Jacob Fiksel, Joseph Park, Kirk J. Wangensteen, Marjorie Risman, Kyong‐Mi Chang, Marina Serper, Rotonya M. Carr, Kai Markus Schneider, Jinbo Chen, Daniel J. Rader · 发表于：EClinicalMedicine · 年份：2023 · DOI：10.1016/j.eclinm.2023.102149 · 被引用次数：27 · 研究领域：Liver Disease Diagnosis and Treatment、Hepatitis C virus research、Artificial Intelligence in Healthcare

Background Nonalcoholic fatty liver disease (NAFLD) is a major cause of liver-related morbidity in people with and without diabetes, but it is underdiagnosed, posing challenges for research and clinical management. Here, we determine if natural language processing (NLP) of data in the electronic health record (EHR) could identify undiagnosed patients with hepatic steatosis based on pathology and radiology reports. Methods A rule-based NLP algorithm was built using a Linguamatics literature text mining tool to search 2.15 million pathology report and 2.7 million imaging reports in the Penn Medicine EHR from November 2014, through December 2020, for evidence of hepatic steatosis. For quality control, two independent physicians manually reviewed randomly chosen biopsy and imaging reports (n = 353, PPV 99.7%). Findings After exclusion of individuals with other causes of hepatic steatosis, 3007 patients with biopsy-proven NAFLD and 42,083 patients with imaging-proven NAFLD were identified. Interestingly, elevated ALT was not a sensitive predictor of the presence of steatosis, and only half of the biopsied patients with steatosis ever received an ICD diagnosis code for the presence of NAFLD/NASH. There was a robust association for PNPLA3 and TM6SF2 risk alleles and steatosis identified by NLP. We identified 234 disorders that were significantly over- or underrepresented in all subjects with steatosis and identified changes in serum markers (e.g., GGT) associated with presence of st...