Citations 2
Characterizing VEXAS syndrome in women: Findings from an international multicenter study
Lacombe, Valentin , Beck, David B. , Jachiet, Vincent , Comont, Thibault , Heiblig, Maël , Nguyen, Alexandre , Aouba, Achille, Boulu, X. , Curie, Alexandre, Terrier, Benjamin , Bescond, Charles, Kirino, Yohei , Lacombe, Valentin , Beck, David B , Comont, Thibault , Heiblig, Mael , Koster, Matthew, Kirino, Yohei , Mékinian, Arsène , Georgin-Lavialle, Sophie , Bourguiba, Rim , Martín‐Nares, Eduardo , Aouba, Achille , Curie, Alexandre, Koster, Matthew J. , Kosmider, Olivier , Mékinian, A. , Georgin‐Lavialle, Sophie
Journal of Internal Medicine | September 23, 2025 | Volume: 298 | Issue: 5 | Pages: 516-524
AbstractBackgroundVEXAS syndrome is an autoinflammatory disease caused by somatic UBA1 mutations on the X chromosome, predominantly affecting men.ObjectiveTo characterize VEXAS syndrome in women and to compare the features of VEXAS syndrome between sexes.MethodsWe conducted an international, multicenter study, including 12 women and 301 men with genetically confirmed VEXAS syndrome. Data were collected using a standardized case report form. Bone marrow analyses and molecular investigations were performed locally.ResultsClinical features, age at onset, UBA1 mutation type, variant allele frequency, and mortality were comparable between sexes. Acquired X monosomy was found in 6/8 tested women. Additional clonal mutations were present in 3/5 tested women. Three additional UBA1‐mutated women without typical inflammation are described separately.ConclusionVEXAS syndrome affects women with clinical features similar to men, supporting the need for UBA1 testing in women with compatible presentations. X monosomy is common but not universal, suggesting alternative pathogenic mechanisms.
American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel
Mékinian, A. , Georgin‐Lavaille, Sophie, Savic, Sinisa , Koster, Matthew J. , Comont, Thibault , Heilblig, Mael, Aróstegui, Juan I. , Bosco, Annmarie , Cargo, Catherine , Cattaneo, Chiara , Chasset, François , Coelho, Henrique , Ducharme‐Bénard, Stéphanie , Frassi, Micol, Hakobyan, Yervand , Jurcuț, Ciprian , Kirino, Yohei , Kunimoto, Hiroyoshi , Madigan, Lauren M. , Moráis, Sara , Sockel, Katja , Patnaik, Mrinal M. , Regadas, Luísa, Robin, Marie , Rutgers, Abraham , Salvarani, Carlo , Sammel, Anthony M. , Sujobert, Pierre , Tomelleri, Alessandro , Vandergheynst, Frédéric , Vieira, Romana, Viswanatha, David S., Diral, Elisa , Terrier, Benjamin , Fenaux, Pierre, Grayson, Peter C. , Beck, David B. , Diseases, the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological, Mékinian, Arsène , Koster, Matthew J , Bourguiba, Rim , Campochiaro, Corrado , Crisafulli, Francesca , Gurnari, Carmelo , Jamilloux, Yvan , Kirino, Yohei , Marvisi, Chiara , Milchert, Marcin , Rutgers, Abraham , Salvarani, Carlo , Tomelleri, Alessandro , Urbanski, Geoffrey , Terrier, Benjamin , Grayson, Peter C , Beck, David B , Robin, Marie , Savic, Sinisa , Georgin‐Lavialle, Sophie , Ferrada, Marcela A. , Kosmider, Olivier , Calvo, Katherine R. , Campochiaro, Corrado , Faria, Raquel , Franceschini, Franco , Groarke, Emma M , Gurnari, Carmelo , Kulasekararaj, Austin , Mann, H. , Marvisi, Chiara , Milchert, Marcin , Muratore, Francesco , Nakajima, Hideaki , Seebach, Jörg Dieter , Więsik–Szewczyk, Ewa , Patel, Bhavisha A. , Fenaux, Pierre , Diseases, the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological
Arthritis & Rheumatology | August 11, 2025 | Volume: 78 | Issue: 3 | Pages: 509-522
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality. Methods Given the variability in disease presentation and the limited number of studies to date, no clinical documents currently exist to provide guidance to health care providers about the management of VEXAS. To address this gap, we formed an international multidisciplinary panel of VEXAS experts. Results Through formalized meetings and a voting process, the group developed consensus clinical guidance considerations for the management of VEXAS. These considerations offer practical advice on several key topics: (1) clinical features of VEXAS, (2) UBA1 screening methods, (3) the diagnosis of myelodysplastic syndromes (MDSs) in patients with VEXAS, and (4) prognosis and management. The aim is to provide expert guidance on which patients to test, how to test for VEXAS, how to approach MDS in the context of VEXAS, and considerations for management. Conclusion This work marks the first formal international consensus guidance for VEXAS and is intended to be used as a resource for clinicians seeking to understand the disease and its management.