A Rheumatologic Clinical Profile of the VEXAS Syndrome: Results from a Survey Conducted Among Rheumatologic Units of 126 Hospitals Across Spain

Marta López I Gómez¹, Paula García Escudero², Marta López³, Berta Magallanes López⁴, Meritxell Salles Lizarzaburu⁵, Beatriz Frade Sosa⁶, Elena Riera⁷, Ernesto Trallero Araguás⁸, MARIA ELVIRA DIEZ ALVAREZ⁹, Francisco Javier Toyos Sáenz de Miera¹⁰, Alicia Garcia Dorta¹¹, José Ángel Hernández Beriain¹², Marta Ibáñez Martínez¹³, carolina Merino¹⁴, PALOMA VELA¹⁵, Ana Victoria Orenes Vera¹⁶, Diego Dios Santos¹⁷, Jose Alberto Miranda Filloy¹⁸, Clara García Belando¹⁹, María Rodríguez Laguna²⁰, Ignacio Vázquez²¹, Joaquin Belzunegui²², Judit Font²³, Carlos de Miguel Sánchez²⁴, Zuriñe Ortiz de Zárate Caballero²⁵ and Jaime Calvo Alén²⁶, ¹Hospital Universitario de Araba, Pamplona, Spain, ²Hospital Universitario Araba, Bilbao, Spain, ³Hospital Universitario Arava, Pamplona, Spain, ⁴Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, ⁵C. H. de Manresa - Fundació Althaia, Barcelona, Spain, ⁶Hospital Clínic de Barcelona, Barcelona, Spain, ⁷H. U. Mútua Terrasa, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain, ⁹Rheumatology, Hospital Universitario de León, León, Spain, ¹⁰Hospital Virgen Macarena, Sevilla, Spain, ¹¹Rheumatology Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain, ¹²Rheumatology, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain, ¹³C. A. U. de Salamanca, Salamanca, Spain, ¹⁴Rheumatology Department Hospital Universitario Puerta de Hierro, Majadahonda (Madrid), Spain, ¹⁵Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, ¹⁶H. Arnau de Vilanova, Valencia, Spain, ¹⁷Rheumatology department, Complexo Hospitalario Universitario A Coruña (CHUAC). Instituto de Investigación Biomédica A Coruña (INIBIC), A Coruña, Spain, ¹⁸C. H. U. Lucus Augusti, Lugo, Spain, ¹⁹Hospital Los Arcos del Mar Menor, Murcia, Spain, ²⁰H. Clínico San Carlos, Madrid, Spain, ²¹H. U. Dr. Peset, Valencia, Spain, ²²H. C. Alto Deba, Donostia, Spain, ²³Hospital Universitario Germans Trias i Pujol, Badalona, Spain, ²⁴Hospital Universitario de Araba, Hematology, VItoria, Spain, ²⁵Hospital Universitario de Araba, Internal Medicine, Vitoria, Spain, ²⁶Hospital Universitario Araba, Vitoria, Spain

Meeting: ACR Convergence 2023

Keywords: Autoinflammatory diseases, Renal

Session Information

Date: Monday, November 13, 2023

Title: (1124–1154) Miscellaneous Rheumatic & Inflammatory Diseases Poster II

Session Type: Poster Session B

Session Time: 9:00AM-11:00AM

Background/Purpose: The newly described VEXAS syndrome is a very heterogenous disease with rheumatologic and hematologic manifestations, caused by somatic mutations affecting UBA1 gene, that still requires a precise definition. Our objective was to describe the clinical profile of VEXAS patients (VP) diagnosed and monitored in rheumatologic units in Spain.

Methods: A comprehensive survey covering the whole country, which included 126 Spanish hospitals with rheumatologic units, was performed to identify all the VP observed in those units. VP were defined as compatible clinical picture plus characteristic BMB and/or confirmed UBA1 gene mutations. Demographic, clinical, laboratory and outcome data were collected from medical records. Descriptive analyses were performed employing standard tests.

Results: A total of 28 VP were identified. All of them were men and had a Caucasian origin, with a mean age at diagnosis of 70.96 (±SD 8.92) years. Constitutional symptoms and fever were detected in 26 (92.85%) patients, while arthritis was present in 23 (82.14%) of them, and chondritis (including nasal chondritis, perichondritis and epiglottis’ chondritis) was found in 16 (57.14%) cases. Twenty-six (92.85%) patients presented 1 or more skin manifestations, being the most frequent ones: Sweet syndrome (n=18, 64.28%), leukocytoclastic vasculitis (n=8, 28.57%), erythema nodosum (n=3, 10.71%), Jessner’s lymphocytic infiltration of the skin (n=2, 7.14%), and lupus-like skin lesions (n=2, 7.14%). Pulmonary involvement was found in 10 (35.71%) cases; patients presented 1 or more findings, including lung infiltrates (n=5), interstitial lung disease (n=5), pleurisy (n=2), and alveolar hemorrhage (n=1). It is worth remarking the finding of renal involvement (acute renal failure n=3, IgA nephropathy n=1, nephrotic syndrome n=1) attributed to VEXAS syndrome in 5 patients out of 28 (17.85%), complication which has not been previously described in other studies to our knowledge at the time of this publication. Other clinical manifestations are included in Table 1. Anaemia was found in 27 (96.42%) cases, being macrocytic in 22 of them; 19 (67.85%) presented thrombocytopenia as well; furthermore, 18 (64.28%) met criteria for MDS. Other laboratory findings are included in Table 2.

Conclusion: The clinical manifestations identified within our cohort of VEXAS syndrome, focusing on the rheumatologic aspect, exhibit similarities to those previously documented in this condition. However, a noteworthy observation in our study is the presence of renal involvement attributed to VEXAS syndrome in nearly 20% of our patients. This complication has not been reported in previous studies, as far as our knowledge extends at the time of this publication.

Table 1. Baseline clinical characteristics.

Table 2. Laboratory tests.

Disclosures: M. López I Gómez: None; P. García Escudero: None; M. López: None; B. Magallanes López: None; M. Salles Lizarzaburu: None; B. Frade Sosa: None; E. Riera: None; E. Trallero Araguás: None; M. DIEZ ALVAREZ: None; F. Toyos Sáenz de Miera: None; A. Garcia Dorta: None; J. Hernández Beriain: None; M. Ibáñez Martínez: None; c. Merino: None; P. VELA: AbbVie/Abbott, 5, AstraZeneca, 5, Eli Lilly, 5, 6, GlaxoSmithKlein(GSK), 6, Novartis, 5, Pfizer, 5; A. Orenes Vera: None; D. Dios Santos: None; J. Miranda Filloy: None; C. García Belando: None; M. Rodríguez Laguna: None; I. Vázquez: None; J. Belzunegui: None; J. Font: None; C. de Miguel Sánchez: None; Z. Ortiz de Zárate Caballero: None; J. Calvo Alén: None.

To cite this abstract in AMA style:

López I Gómez M, García Escudero P, López M, Magallanes López B, Salles Lizarzaburu M, Frade Sosa B, Riera E, Trallero Araguás E, DIEZ ALVAREZ M, Toyos Sáenz de Miera F, Garcia Dorta A, Hernández Beriain J, Ibáñez Martínez M, Merino c, VELA P, Orenes Vera A, Dios Santos D, Miranda Filloy J, García Belando C, Rodríguez Laguna M, Vázquez I, Belzunegui J, Font J, de Miguel Sánchez C, Ortiz de Zárate Caballero Z, Calvo Alén J. A Rheumatologic Clinical Profile of the VEXAS Syndrome: Results from a Survey Conducted Among Rheumatologic Units of 126 Hospitals Across Spain [abstract]. Arthritis Rheumatol. 2023; 75 (suppl 9). https://acrabstracts.org/abstract/a-rheumatologic-clinical-profile-of-the-vexas-syndrome-results-from-a-survey-conducted-among-rheumatologic-units-of-126-hospitals-across-spain/. Accessed .

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