VEXAS syndrome through a rheumatologist’s lens: insights from a Spanish national cohort
This study provides insights into the clinical spectrum of VEXAS syndrome in rheumatology settings, highlighting a higher prevalence of joint symptoms and renal involvement than previously reported. Genotype-phenotype correlations were observed, with M41V significantly associated with renal involvement and M41T linked to deep vein thrombosis and thrombocytopaenia. A new, presumably causative variant of VEXAS syndrome at site c.209T>A was described. These findings contribute to the growing understanding of VEXAS syndrome and may inform future diagnostic and treatment strategies.
Authors
- Alina Boteanu (ORCID: https://orcid.org/0000-0002-7826-6947)
- C. Sieiro Santos (ORCID: https://orcid.org/0000-0003-0889-9877)
- R. González (ORCID: https://orcid.org/0000-0002-7967-351X)
- D. Fiallo (ORCID: https://orcid.org/0000-0002-2901-9405)
- Eugenia Enríquez Merayo
- Íñigo Rúa‐Figueroa (ORCID: https://orcid.org/0000-0002-7894-1690)
- I. Monjo (ORCID: https://orcid.org/0000-0002-3252-8016)
- Berta Magallares López
- Marta Ibáñez Martínez
- Marta López-Gómez
- Jaime Calvo‐Alén (ORCID: https://orcid.org/0000-0001-9378-8412)
- Elena Riera Alonso
- I Vázquez Gómez (ORCID: https://orcid.org/0009-0002-9104-6890)
- F. J. Toyos Sáenz de Miera
- Paloma Vela (ORCID: https://orcid.org/0000-0001-8566-5172)
- Jean Miranda
- J. Font (ORCID: https://orcid.org/0000-0002-4046-6214)
- Ernesto Trallero‐Araguás (ORCID: https://orcid.org/0000-0003-3365-4521)
- Clara García Belando
- María Rodríguez‐Laguna
- Meritxell Sallés (ORCID: https://orcid.org/0000-0002-3721-645X)
- Alberto Ruíz-Román (ORCID: https://orcid.org/0000-0002-6341-1750)
- A. García Dorta (ORCID: https://orcid.org/0000-0003-1820-9630)
- Beatriz Frade‐Sosa (ORCID: https://orcid.org/0000-0002-5867-8434)
- Elvira Díez Álvarez
- J. A. Hernandez Beriain
- Diego Dios Santos
- C. Merino
- P. García-Escudero
- Giuliano Boselli
- Cristina Corrales Selaya
Institutions
- University of the Basque Country (ES)
- Hospital Universitario Insular de Gran Canaria (ES)
- Hospital Universitario de Canarias (ES)
- Hospital Universitario La Paz (ES)
- Hospital de Sant Pau (ES)
- Hospital Clínico San Carlos (ES)
- Hospital Universitario Virgen Macarena (ES)
- Althaia (ES)
- Hospital Universitario de Gran Canaria Doctor Negrín (ES)
- Complejo Hospitalario de Salamanca (ES)
- Marqués de Valdecilla University Hospital (ES)
- Hospital Universitario 12 De Octubre (ES)
- Hospital Universitario Puerta de Hierro Majadahonda (ES)
- Hospital Universitario Araba (ES)
- Hospital Universitario Miguel Servet (ES)
- Hospital Clínic de Barcelona (ES)
- Hospital Universitario Doctor Peset (ES)
- Vall d'Hebron Hospital Universitari (ES)
- Hospital Juan Ramón Jiménez (ES)
- Mútua Terrassa (ES)
- Hospital de Sant Joan Despí Moisès Broggi (ES)
- Hospital General Universitario de Alicante Doctor Balmis (ES)
- Complexo Hospitalario Universitario A Coruña (ES)
- Hospital Universitario Lucus Augusti (ES)
- Instituto de Investigación Sanitaria de Santiago (ES)
- Hospital Universitario Virgen de la Arrixaca (ES)
- Hospital Universitari Germans Trias i Pujol (ES)
- Hospital Universitario Ramón y Cajal (ES)
- Complejo Asistencial Universitario de Palencia (ES)
- Complejo Hospitalario de Ourense (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- Lara D. Veeken
- Published
- 2025-02-10
- DOI
- https://doi.org/10.1093/rheumatology/keaf094
- Citations
- 8
- Primary Topic
- Otitis Media and Relapsing Polychondritis
- Type
- article
- Field-Weighted Citation Impact
- 13.34