Systematic search for the UBA1 mutation in men after a first venous thrombotic episode - 12/05/23
, Marie Templé 2, Cecile Bally 3, Agathe Spaeth 2, Luc Darnige 4, Olivier Sanchez 5, Benjamin Planquette 5, Emmanuel Messas 1, David Smadja 6, Joseph Emmerich 4, Tristan Mirault 1, Olivier Kosmider 2, Nicolas Gendron 4Résumé |
Introduction |
VEXAS syndrome (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an autoinflammatory disease, described in adults in 2020, caused by a somatic mutation of the Ubiquitin like modifier activating enzyme 1 (UBA1) gene located on the X chromosome. VEXAS syndrome is mainly described in men after 50 years of age with a systemic inflammatory disease associated with febrile episodes, but also hematological, pulmonary, cutaneous, vascular, cartilaginous and articular involvement. Thrombotic complications have been reported in approximately 40% of VEXAS patients, with a predominance of venous thromboembolic events (VTE) rather than arterial thromboembolic events. Among the VTEs, deep vein thrombosis (DVT) was more frequent than pulmonary embolism (PE). The pathophysiology of VTE in VEXAS remains unknown.
Objective |
The objective of the study was to determine the frequency of UBA1 mutations in a cohort of men over 50 years of age with a first VTE.
Method |
Our study included male patients aged > 50 years included in our center between January 2003 and January 2009, as part of the multicenter FARIVE study. The FARIVE case-control study included consecutive patients treated as inpatients or outpatients for a first episode of proximal DVT and/or PE. All patients were sampled for genetic study. In this study, exon 3 of UBA1 was sequenced.
Results |
A total of 97 patients were included with a median age of 65 years and a median body mass index of 25.5. Of the patient cohort, 49 (50.5%) presented with an unprovoked VTE. Thrombophilia testing was available for 56 (57.7%) of the 97 patients and no severe thrombophilia was diagnosed among the patients tested. In the end, no UBA1 mutations were detected among the 97 patients (Table 1). VEXAS syndrome is associated with a high incidence of VTE but our study does not encourage its investigation in all men over 50 years of age with a first VTE without considering other clinical symptoms related to VEXAS.
Conclusion |
Routine screening for UBA1 exon 3 mutations should not be recommended after a first VTE.
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Vol 15 - N° 2
P. 182-183 - mai 2023 Retour au numéro
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- Linking platelet lipidome and inflammatory response in septic patients
- Emma de Cartier, Mélanie Dechamps, Julien De Poortere, Christine Des Rosiers, Anik Forest, Bruno Guigas, Martin Giera, Jerome Ambroise, Luc Bertrand, Christophe Beauloye, Sandrine Horman
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