VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies - PubMed
4 hours ago
- #autoinflammatory disorder
- #VEXAS syndrome
- #UBA1 mutation
- VEXAS syndrome is an adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene.
- Primarily affects older males, with over 300 cases reported since its identification in 2020.
- Clinical phenotypes include relapsing polychondritis, cytopenias, neutrophilic dermatoses, and overlap with myelodysplastic syndromes.
- Diagnosis is confirmed by detecting somatic mutations in UBA1, most commonly at codon 41.
- Treatment responses vary; corticosteroids are used initially, but JAK inhibitors, hypomethylating agents, or hematopoietic stem-cell transplantation show longer-lasting benefits.
- Therapeutic decision-making remains empirical due to lack of controlled trials.
- Early molecular diagnosis and genotype-informed treatment strategies are critical.
- Collaborative, prospective studies are needed to refine diagnostic algorithms and optimize therapeutic outcomes.