AB0038 “RHEUMATOLOGIC” CLINICAL PROFILE OF VEXAS SYNDROME: RESULTS FROM A MULTI-INSTITUTIONAL SPANISH SURVEY
Authors: J. Calvo Alén, M. López I Gómez, P. García, M. López-Maraver, B. P. Magallares López, J. Font, B. Frade-Sosa, E. Diez Alvarez, C. Sieiro Santos, E. Trallero, Í. Rúa-Figueroa, F. J. Toyos Sáenz de Miera, A. García Dorta, J. A. Hernandez Beriain, M. Sallés Lizarzaburu, E. Riera Alonso, P. Vela Casasempere, J. A. Miranda Fillloy, G. Boselli Oporto, C. García Belando, R. B. Melero-González, D. Dios Santos, I. Vázquez-Gómez, I. Monjo-Henry, C. Merino Argumánez, M. Rodríguez Laguna, M. Ibañez, E. Enriquez Merayo, A. Ruiz Román, J. Beluznegui Otano, C. De Miguel Sánchez
Journal: Annals of the Rheumatic Diseases (2024)

<h3>Background:</h3> VEXAS syndrome is characterized by heterogeneous rheumatologic and hematologic manifestations driven by somatic UBA1 gene mutations. It, however, requires a more precise clinical definition. <h3>Objectives:</h3> This study aims to comprehensively describe the clinical profile of VEXAS patients (VP) managed in Spanish rheumatologic units. <h3>Methods:</h3> A nationwide survey across 126 rheumatologic units within Spanish public hospitals identified 38 VP based on clinical compatibility, characteristic bone marrow biopsy (BMB) findings, and/or confirmed UBA1 gene mutations. Demographic, clinical, laboratory, and outcome data were retrospectively collected from medical records in a standardized form. <h3>Results:</h3> Thirty-eight VP were identified. All were men and Caucasian, with a mean age at diagnosis of 73.18 (±SD 9.08) years. Constitutional symptoms and fever were detected in 30 (78.95%) patients, as well as arthritis, and chondritis (including nasal chondritis, perichondritis and epiglottis' chondritis) was found in 20 (52.63%) cases. Thirty-two (84.21%) patients presented 1 or more skin manifestations, being the most frequent ones: Sweet syndrome (n=19, 50%), leukocytoclastic vasculitis (n=9, 23.68%), erythema nodosum (n=8, 21.05%), Jessner's lymphocytic infiltration of the skin (n=2, 5.26%), and lupus-like skin lesions (n=2, 5.26%). Pulmonary involvement ocurred in 15 (39.47%) cases, including lung infiltrates (n=7), interstitial lung disease (n=5), pleurisy (n=2), and alveolar hemorrhage (n=1). Remarkably, renal involvement (acute renal failure n=3, nephrotic syndrome n=2, and IgA nephropathy n=1) attributed to VEXAS syndrome, which had not previously reported, occurred in 6 patients (15.78%). Other clinical manifestations are included in Table 1. Anemia was found in 94.73% cases, being macrocytic in 31 (81.58%) of them; 25 (65.79%) presented thrombocytopenia as well; furthermore, 19 (50%) met criteria for MDS. Other laboratory findings are included in Table 2. <h3>Conclusion:</h3> Our VEXAS syndrome cohort aligns with reported rheumatologic manifestations, with a noteworthy inclusion of renal involvement in 15% of patients, a new finding at the time of this publication. This detailed characterization enhances our understanding of VEXAS syndrome's clinical spectrum. <h3>REFERENCES:</h3> <b>NIL.</b> <h3>Acknowledgements:</h3> <b>NIL.</b> <h3>Disclosure of Interests:</h3> <b>None declared.</b>