Streamlining Anomaly Detection for Rheumatology: A Systematic Literature Review

Abstract

This study investigated the effectiveness of Artificial Intelligence (AI) and Machine Learning (ML) approaches for anomaly detection in rheumatology, focusing on their potential to improve clinical insights and identify deviations in disease patterns and diagnostics. This systematic review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive search was conducted across PubMed, Cochrane Library, Web of Science, Scopus, and EBSCO databases to identify cohort studies that developed and/or validated AI and ML models for anomaly detection in rheumatology. Data were extracted and studies were critically evaluated using the Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis (TRIPOD) guidelines and the Prediction Model Risk of Bias Assessment Tool (PROBAST), with the search last updated on January 28, 2025. The systematic search yielded 2,089 unique citations, from which 40 studies met the inclusion criteria. AI and ML models included demonstrated high performance measures. Most studies focused on rheumatoid arthritis, utilising imaging data, biomarkers, and electronic health records. The quality assessment revealed that 72.5% of the studies had a low risk of bias; however, 25% exhibited high risk due to methodological limitations such as insufficient validation and unclear outcome definitions. Reporting standards were generally well adhered to, although critical gaps such as blinding and risk stratification were frequently overlooked. This study identified a predominance of unclear and high risks of bias across many models, highlighting the need for transparency improvements and addressing such limitations. Key areas for enhancement include incorporating robust calibration measures to improve models and performance measures.Graphical abstract