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Front Immunol ; 15: 1403808, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38840907

RESUMO

VEXAS syndrome is a recently described autoinflammatory syndrome caused by the somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation can mimic several rheumatologic disorders, delaying the diagnosis. We describe a case of atypical presentation resembling late-onset axial spondylarthritis, later progressing to a systemic inflammatory syndrome with chondritis, cutaneous vasculitis, and transfusion-dependent anemia, requiring high doses of steroids. Ruxolitinib was used as the first steroid-sparing strategy without response. However, azacitidine showed activity in controlling both inflammation and the mutant clone. This case raises the question of whether azacitidine's anti-inflammatory effects are dependent on or independent of clonal control. We discuss the potential relevance of molecular remission in VEXAS syndrome and highlight the importance of a multidisciplinary team for the care of such complex patients.


Assuntos
Azacitidina , Sacroileíte , Enzimas Ativadoras de Ubiquitina , Humanos , Azacitidina/uso terapêutico , Sacroileíte/tratamento farmacológico , Sacroileíte/diagnóstico , Sacroileíte/genética , Enzimas Ativadoras de Ubiquitina/genética , Mutação , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Síndromes Mielodisplásicas/tratamento farmacológico , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/diagnóstico
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