ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 2054

Phenotypical Differences in VEXAS Syndrome, Where Are We a Year Later? Results from a National Cohort Focused on Rheumatological Patients

Paula García Escudero1, Marta López I Gómez2, Berta Magallanes López3, Diego Dios Santos4, Francisco Javier Toyos Sáenz de Miera5, Alicia García Dorta6, José Ángel Hernández Beriain7, Íñigo Rúa-Figueroa8, cristiana sieiro santos9, Elvira Díez Álvarez10, Marta Ibáñez Martínez11, Beatriz Frade-Sosa12, Judit Font Urgelles13, Meritxell Sallés Lizarzaburu14, Elena Riera Alonso15, Ernesto Trallero Araguás16, Eugenia Enríquez Merayo17, Maria Rodriguez-Laguna18, irene monjo19, Carolina Merino20, Paloma Vela-Casasempere21, Ignacio Vázquez Gómez22, Jose Alberto Miranda Filloy23, Rafael Benito Melero-Gonzalez24, Clara Garcia Belando25, Giuliano Boselli26, Alina Lucica Boteanu27, Dolly Viviana Fiallo Suárez28, Cristina Corrales Selaya29, ALBERTO MARIANO RUIZ ROMAN30 and Jaime Calvo-Alén31, 1Hospital Universitario Araba, Vitoria, 2Hospital Universitario Alava, Vitoria, Pais Vasco, Spain, 3Hospital de la Santa Creu i Sant Pau, Barcelona, 4C. H. U. A Coruña, C. H. U. A Coruña, 5H. U. Virgen Macarena, H. U. Virgen Macarena, 6Rheumatologist, La Laguna, Spain, 7Rheumatology Department. Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran C, Spain, 8Department of Rheumatology, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Las Palmas GC, Spain, 9Rheumatology Department, Complejo Asistencial Universitario de León, León, Spain, Leon, Spain, 10Complejo Asistencial Universitario de León, León, Spain, 11Hospital Clínico Universitario de Salamanca, Salamanca, Spain, 12Hospital Clinic de Barcelona, Barcelona, Spain, 13Hospital Universitari Germans Trias i Pujol, Badalona, Spain, 14Althaia Xarxa Assistencial Universitària Manresa, Manresa, Catalonia, Spain, 15Mutua de Terrasa, Barcelona, 16Hospital Vall D'Hebron, Barcelona, Spain, 17Hospital 12 de Octubre, Madrid, 18Resident in Rheumatology, Madrid, Spain, 19University Hospital La Paz, Madrid, Spain, 20Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda (Madrid), Spain, 21Hospital General Universitario Alicante, Alicante, Spain, 22H. U. Dr. Peset, Valencia, 23C. H. U. Lucus Augusti, Lugo, Spain, 24CHU Ourense, O Carballino, Spain, 25H. C. U. Virgen de la Arrixaca, Murcia, 26hospital miguel servet, zaragoza, Aragon, Spain, 27H.U. Ramón y Cajal, Madrid, Spain, 28H. U. de Gran Canaria. Dr. Negrin, H. U. de Gran Canaria, 29Rheumatology, Marques de Valdecilla University Hospital. IDIVAL, Santander, Cantabria, Spain, 30Hospital Universitario Juan Ramón Jiménez, Huelva, Spain, 31Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain

Meeting: ACR Convergence 2024

Keywords: , , , ,

Session Information

Date: Monday, November 18, 2024

Title: Miscellaneous Rheumatic & Inflammatory Diseases Poster III

Session Type: Poster Session C

Session Time: 10:30AM-12:30PM

Background/Purpose: VEXAS syndrome is an autoinflammatory disorder caused by a mutation in the UBA1 gene, which leads to a heterogeneous clinical presentation and progressive bone marrow failure. Differences in symptoms and severity have been described in relation to the type of genetic mutation objectified. This study aims to categorize these clinical subsets in our cohort.

Methods: A retrospective, multicenter study was performed across all 126 hospitals with rheumatology units in Spain. Patients diagnosed with VEXAS syndrome, characterized by a clinical presentation compatible with a UBA1 gene mutation and/or presence of vacuoles in bone marrow were included. Data on demographics, clinical features, laboratory results, genetic mutations, and outcomes were collected. Statistical analyses were conducted using standardized tests.

Results: A total of 42 patients were included, with an average age at diagnosis of 71.55 years (SD ±14.28) and an average age at symptom onset of 66.12 years (SD ±14.27). The median time from symptom onset to diagnosis was 5 years (IQR 1.75-8.25), and the median time from symptom onset to rheumatology referral was 1 year.

Of these patients, 18 presented a leucine mutation, 6 a valine mutation and 14 a threonine one. Baseline clinical characteristics by mutation type are detailed in Table 1. Type 1 – leucine mutation was associated with constitutional syndrome, skin involvement, arthritis, and anemia, though these associations were numerically rather than statistically significant. Type 2 – valine mutation was linked to fever, constitutional syndrome, lung involvement as well as anemia and skin manifestations. This group had a notably higher prevalence of renal involvement, which was statistically significant. Type 3 – threonine mutation was correlated with fever, constitutional syndrome, skin involvement, arthritis, and anemia. Deep vein thrombosis and thrombocytopenia showed statistically significant associations with the threonine mutation (Figure 1). Five patients died from VEXAS syndrome: two of them showed a leucine mutation, two a valine mutation and one a threonine mutation (Figure 2).

Conclusion: Although preliminary, these findings suggest that deep vein thrombosis and thrombocytopenia are significantly associated with the threonine mutation, whereas renal involvement is significantly linked to the valine mutation in our cohort.

Supporting image 1

Table 1. Baseline characteristics:

Supporting image 2

Figure 1. Clinical associations with mutations:

Supporting image 3

Figure 2. Survival:

Disclosures: P. García Escudero: None; M. López I Gómez: None; B. Magallanes López: None; D. Dios Santos: None; F. Toyos Sáenz de Miera: None; A. García Dorta: None; J. Hernández Beriain: None; Í. Rúa-Figueroa: AstraZeneca, 2, 6, GlaxoSmithKlein(GSK), 2, 6, Otsuka, 2, 6; c. sieiro santos: None; E. Díez Álvarez: None; M. Ibáñez Martínez: None; B. Frade-Sosa: None; J. Font Urgelles: None; M. Sallés Lizarzaburu: None; E. Riera Alonso: None; E. Trallero Araguás: None; E. Enríquez Merayo: None; M. Rodriguez-Laguna: None; i. monjo: None; C. Merino: None; P. Vela-Casasempere: None; I. Vázquez Gómez: None; J. Miranda Filloy: None; R. Melero-Gonzalez: None; C. Garcia Belando: None; G. Boselli: None; A. Boteanu: None; D. Fiallo Suárez: None; C. Corrales Selaya: None; A. RUIZ ROMAN: None; J. Calvo-Alén: None.

To cite this abstract in AMA style:

García Escudero P, López I Gómez M, Magallanes López B, Dios Santos D, Toyos Sáenz de Miera F, García Dorta A, Hernández Beriain J, Rúa-Figueroa Í, sieiro santos c, Díez Álvarez E, Ibáñez Martínez M, Frade-Sosa B, Font Urgelles J, Sallés Lizarzaburu M, Riera Alonso E, Trallero Araguás E, Enríquez Merayo E, Rodriguez-Laguna M, monjo i, Merino C, Vela-Casasempere P, Vázquez Gómez I, Miranda Filloy J, Melero-Gonzalez R, Garcia Belando C, Boselli G, Boteanu A, Fiallo Suárez D, Corrales Selaya C, RUIZ ROMAN A, Calvo-Alén J. Phenotypical Differences in VEXAS Syndrome, Where Are We a Year Later? Results from a National Cohort Focused on Rheumatological Patients [abstract]. Arthritis Rheumatol. 2024; 76 (suppl 9). https://acrabstracts.org/abstract/phenotypical-differences-in-vexas-syndrome-where-are-we-a-year-later-results-from-a-national-cohort-focused-on-rheumatological-patients/. Accessed .

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