VEXAS syndrome (VEXAS is the acronym for: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described monogenic, highly febrile, autoinflammatory disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells.
Patients develop diffuse inflammatory and hematologic symptoms and a high rate of thrombosis. Myeloid autoinflammation and progressive bone marrow failure lead to significant morbidity and mortality. VEXAS syndrome represents a prototype for a new class of diseases.
Patients must meet the following clinical criteria for a diagnosis of "VEXAS syndrome":
- An inflammatory syndrome (recurrent polychondritis -50% of patients), Sweet syndrome, polyarteritis nodosa or giant cell arteritis).
- or a haematological disease (myelodysplastic syndrome or multiple myeloma)
- or an inflammatory syndrome+haematological disease