Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome

VEXAS syndrome was described by the end of 2020 as an autoinflammatory disease caused by post-zygotic variants in the UBA1 gene. VEXAS syndrome occurs in adult males with recurrent fever, arthralgia/arthritis, ear/nose chondritis, neutrophilic dermatosis, lung inflammation, venous thrombosis, and different types of vasculitis. Common laboratory changes include raised acute phase reactants and macrocytic anemia. The coexistence of myelodysplasia is frequent, and bone marrow vacuolization of myeloid and erythroid precursors is characteristic. Glucocorticoids are effective at medium-high doses, but the remaining immunosuppressive drugs, either conventional or biological, have showed limited or absent efficacy. Azacitidine has been associated with a good response, especially in patients with accom-panying myelodysplastic syndrome. Allogeneic hematopoietic stem cell transplantation appears to be the only curative therapy by now. VEXAS syndrome has become a paradigm shift in the diagnosis and treatment of autoinflammatory diseases and systemic vasculitis.(c) 2022 Elsevier Espan tilde a, S.L.U. All rights reserved.

Automated summary

VEXAS syndrome is an autoinflammatory disease caused by post-zygotic variants in the UBA1 gene. It mainly affects adult males and is characterized by recurrent fever, joint pain, ear/nose chondritis, skin dermatosis, and bone marrow abnormalities. Glucocorticoids are effective in treating the syndrome, but other immunosuppressive drugs have limited efficacy. Allogeneic hematopoietic stem cell transplantation may be the only curative therapy.