VEXAS Syndrome: What do we Know Two Years After its Discovery?

• Autor(a) principal: Saraiva Ferreira , Beatriz
• Data de Publicação: 2023
• Outros Autores: Ribeiro , Margarida, Machado, Andreia, Dionísio, Antony, Roldão, Marta, Araújo, Inês, Fonseca, Cândida
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.24950/rspmi.2208
• topic: Enzimas Ativadoras de Ubiquitina; Inflamação; Síndromes Mielodisplásicas; Síndrome VEXAS; Inflammation; Myelodysplastic Syndromes; Ubiquitin- Activating Enzymes; VEXAS Syndrome

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory,somatic) syndrome was identified in 2020 by Beck et al, when analyzing the genome of 2560 patients with different types of autoinflammatory manifestations. A literature review was carried out with the aim of disseminating existing scientific evidence and increasing the degree of clinical suspicion of the medical community. Currently, many mutations associated with this syndromehave been identified, causing defects in the ubiquitylation and activation of the innate immune system. From the phenotypic analyses of the mutation carriers, some common features were found: male, over 50 years old, cytopenias, fever and constitutional symptoms, and all organs and systems with variable manifestations and proportions may be involved. The inflammatory and multi-systemic nature of this disease leads to a diagnostic and treatment challenge, adding to the already existing high morbimortality. Presently, the treatments with greater efficiency are corticosteroid therapy, azacytidine, JAK-1/2 inhibitors and interleukin-6 inhibitors. There are also benefits in autologous stem cell transplants. Given its recent identification and low number of diagnosedpatients, most available studies have limitations relatedto the methodology and short duration of follow-up, prevailing the need for prospective clinical trials in order to define the best therapeutic strategies and to improve these patients’ prognosis.