POS1186 EVALUATION OF A SCREENING TEST FOR VEXAS SYNDROME USING THE BORDEAUX UNIVERSITY HOSPITAL BIOMEDICAL DATA WAREHOUSE (2024)

Abstract

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.

Acknowledgements: NIL.

Disclosure of Interests: None declared.