VEXAS Syndrome

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described, adult-onset inflammatory disorder caused by acquired UBA1 mutations in hematopoietic stem and progenitor cells. Part 2 of this two-part series CME article focuses on practical approaches to diagnosis, treatment, and prognosis, with an emphasis on dermatology-relevant decision-making. Characteristic laboratory findings, the role of bone marrow evaluation, and targeted UBA1 testing are reviewed, along with proposed clinical screening criteria and diagnostic approaches for genetic confirmation. Current management strategies include glucocorticoids, corticosteroid-sparing immunomodulatory agents, hypomethylating agents, and allogeneic hematopoietic stem cell transplantation. Prognostic factors, including UBA1 variant type, clonal burden, progression to myelodysplastic syndromes, and treatment-related complications such as serious infection are reviewed. Multidisciplinary collaboration among dermatology, rheumatology, hematology, and medical genetics is emphasized as essential for optimizing outcomes in this complex and potentially life-threatening syndrome.

Abstract from PubMed