VEXAS syndrome with leukocytoclastic vasculitis
DOI:
https://doi.org/10.32818/reccmi.a9n2a3Keywords:
VEXAS syndrome, vasculitis, hereditary autoinflammatory diseases, middle agedAbstract
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), first described in 2020, is a monogenic autoinflammatory disease caused by somatic mutations in the UBA1 gene, located on the X chromosome
and therefore predominantly expressed in males. The age of diagnosis is usually over 60 years old, unlike other
autoinflammatory diseases, and clinically it is characterized by episodes of periodic fever, (nasal and/or auricular)
chondritis, pulmonary infiltrates and vasculitis. We report the case of a 77-year-old man with repeated infectious/
inflammatory episodes, diagnosed by sequencing a mutation of the UBA1 gene. Corticosteroid treatment was
instituted, requiring the introduction of biological therapy in the event of an incomplete response.
Downloads
Metrics
References
Hernández-Rodríguez J. Manual de enfermedades autoinflamatorias. Madrid: 1ª edición. Editorial Médica Panamericana. 2022. p. 3-15. ISBN: 9788491109143.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Soma¬tic mutations in UBA1 and severe adult-onset autoinflammatory disease. New England Journal of Medicine. 2020; 383(27): 2628–2638. doi: https:// doi.org/10.1056/NEJMoa2026834 (último acceso mayo 2024).
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated pre¬valence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population. JAMA. 2023; 329(4): 318. doi: https://doi. org/10.1001/jama.2022.24836 (último acceso mayo 2024). DOI: https://doi.org/10.1001/jama.2022.24836
Ferrada MA, Sikora KA, Luo Y, et al. Somatic Mutations in UBA1 Define a distinct subset of relapsing polychondritis patients with VEXAS. Arthritis Rheumatol. 2021; 73(10): 1886-1895. doi: https://doi.org/10.1002/art.41743 (último acceso mayo 2024). DOI: https://doi.org/10.1002/art.41743
Kobak S. VEXAS syndrome: current clinical, diagnostic and treatment ap¬proaches.
Intractable Rare Dis Res. 2023; 12(3): 170–179. doi: https://doi.org/10.5582/ irdr.2023.01020 (último acceso mayo 2024). DOI: https://doi.org/10.5582/irdr.2023.01020
Lacombe V, Prevost M, Bouvier A, Thépot S, Chabrun F, Kosmider O, et al. Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic per-formances and threshold. British Journal of Haematology. 2021; 195(2): 286-289. doi: https://doi.org/10.1111/bjh.17679 (último acceso mayo 2024). DOI: https://doi.org/10.1111/bjh.17679
Gurnari C, Pagliuca S, Durkin L, Terkawi L, Awanda H, Kongkiatkamon S, et al. Vacuolization of hematopoietic precursors: an enigma with multiple etiologies. Blood. 2021; 137(26): 3685-3689. doi: https://doi.org/10.1182/ blood.2021010811 (último acceso mayo 2024). DOI: https://doi.org/10.1182/blood.2021010811
Al-Hakim A, Savic S. An update on VEXAS syndrome. Expert Rev Clin Immunol. 2023; 19(2): 203-215. doi: https://doi.org/10.1080/174466 6x.2023.2157262 (último acceso mayo 2024). DOI: https://doi.org/10.1080/1744666X.2023.2157262
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Salvador Aguilar-Alba, Javier Arenas-Montes, Silvia Soriano-Gandullo, Antonio Trujillo-Aguilera, Begoña Cortés-Rodríguez
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Permite compartir, copiar y redistribuir el material en cualquier medio o formato, bajo los siguientes términos:
Reconocimiento: debe otorgar el crédito correspondiente, proporcionar un enlace a la licencia e indicar si se realizaron cambios. Puede hacerlo de cualquier manera razonable, pero no de ninguna manera que sugiera que el licenciante lo respalda a usted o su uso.
No comercial: no puede utilizar el material con fines comerciales.
No Derivados: si remezcla, transforma o construye sobre el material, no puede distribuir el material modificado.
Sin restricciones adicionales: no puede aplicar términos legales o medidas tecnológicas que restrinjan legalmente a otros de hacer cualquier cosa que permita la licencia.
