Article ; Online: Computable phenotype for real-world, data-driven retrospective identification of relapse in ANCA-associated vasculitis.
2024 Volume 10, Issue 2
Abstract: Objective: ANCA-associated vasculitis (AAV) is a relapsing-remitting disease, resulting in incremental tissue injury. The gold-standard relapse definition (Birmingham Vasculitis Activity Score, BVAS>0) is often missing or inaccurate in registry settings, ...
| Abstract | Objective: ANCA-associated vasculitis (AAV) is a relapsing-remitting disease, resulting in incremental tissue injury. The gold-standard relapse definition (Birmingham Vasculitis Activity Score, BVAS>0) is often missing or inaccurate in registry settings, leading to errors in ascertainment of this key outcome. We sought to create a computable phenotype (CP) to automate retrospective identification of relapse using real-world data in the research setting. Methods: We studied 536 patients with AAV and >6 months follow-up recruited to the Rare Kidney Disease registry (a national longitudinal, multicentre cohort study). We followed five steps: (1) independent encounter adjudication using primary medical records to assign the ground truth, (2) selection of data elements (DEs), (3) CP development using multilevel regression modelling, (4) internal validation and (5) development of additional models to handle missingness. Cut-points were determined by maximising the F1-score. We developed a web application for CP implementation, which outputs an individualised probability of relapse. Results: Development and validation datasets comprised 1209 and 377 encounters, respectively. After classifying encounters with diagnostic histopathology as relapse, we identified five key DEs; DE1: change in ANCA level, DE2: suggestive blood/urine tests, DE3: suggestive imaging, DE4: immunosuppression status, DE5: immunosuppression change. F1-score, sensitivity and specificity were 0.85 (95% CI 0.77 to 0.92), 0.89 (95% CI 0.80 to 0.99) and 0.96 (95% CI 0.93 to 0.99), respectively. Where DE5 was missing, DE2 plus either DE1/DE3 were required to match the accuracy of BVAS. Conclusions: This CP accurately quantifies the individualised probability of relapse in AAV retrospectively, using objective, readily accessible registry data. This framework could be leveraged for other outcomes and relapsing diseases. |
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| MeSH term(s) | Humans ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/diagnosis ; Recurrence ; Male ; Female ; Retrospective Studies ; Phenotype ; Middle Aged ; Registries ; Adult ; Aged ; Longitudinal Studies |
| Language | English |
| Publishing date | 2024-04-30 |
| Publishing country | England |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Multicenter Study |
| ZDB-ID | 2812592-7 |
| ISSN | 2056-5933 ; 2056-5933 |
| ISSN (online) | 2056-5933 |
| ISSN | 2056-5933 |
| DOI | 10.1136/rmdopen-2023-003962 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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