VEXAS Syndrome: What do we Know Two Years After its Discovery?
DOI:
https://doi.org/10.24950/rspmi.2208Keywords:
Inflammation, Myelodysplastic Syndromes, Ubiquitin- Activating Enzymes, VEXAS SyndromeAbstract
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 syndrome
have 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 diagnosed
patients, most available studies have limitations related to 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.
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