Paper
Background: VEXAS syndrome is an acquired monogenic auto-inflammatory disease linked to a mutation in the UBA1 gene discovered in 2020. This disease, which has a poor prognosis in the absence of treatment, combines systemic auto-inflammatory disorders, particularly of the skin and joints, with dysmyelopoiesis. Early diagnosis using molecular biology is important, as certain therapies, such as bone marrow allografts, are curative. Objectives: Interrogate the Bordeaux University Hospital's clinical data warehouse (CDW) via the i2b2 platform to detect VEXAS syndrome in at least one patient not tested for the UBA1 mutation despite a compatible clinical history according to our eligibility criteria. Methods: Thirty thousand two hundred and ninety-seven files were selected from the CDW of the Bordeaux University Hospital via the i2b2 platform, enabling the extraction of files of interest by recognition of criteria previously defined from the literature. These 30,297 files were prioritized according to their number of criteria. The first 240 files were reviewed on the SmartCRF application to determine those actually eligible for UBA1 mutation testing, after elimination of differential diagnoses. Results: Of the 240 files reviewed, 9 were those of VEXAS patients already diagnosed, and 49 were selected as eligible for UBA1 mutation testing. Only 15 patients could be tested on preserved genetic material, and 2 ended up carrying a UBA1 mutation. Conclusion: The use of the i2b2 platform and SmartCRF to screen for VEXAS syndrome enabled the detection of 2 undiagnosed VEXAS. This strategy, which still needs to be improved, looks promising, particularly for detecting VEXAS that began before 2020. REFERENCES: [1] Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 31 déc 2020;383(27):2628-38. [2] Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 24 janv 2023;329(4):318. [3] Zhang Y, Dong X, Wang H. VEXAS Syndrome—Review. Glob Med Genet. Sept 2023;10(03):133-43. [4] Garcelon N, Neuraz A, Benoit V, Salomon R, Kracker S, Suarez F, et al. Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack. Journal of Biomedical Informatics. sept 2017;73:51-61. [5] HAS rapport_entrepots_donnes_sante_hospitaliers, 2022. [6] Pasco J, Campillo-Gimenez B, Guillon L, Cuggia M. Pré-screening et études de faisabilité: l'apport des entrepôts de données de cliniques. Revue d'Épidémiologie et de Santé Publique. Mars 2019;67:S96. Acknowledgements: NIL. Disclosure of Interests: None declared.