Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a novel autoinflammatory disorder caused by somatic mutations in the UBA1 gene. It predominantly affects older me, although cases in women with X-chromosome mosaicism have been reported in the literature. Dermatologic manifestations, found in up to 90% of cases, are significant diagnostic clues and may include erythematous plaques, Sweet syndrome-like lesions, and livedo reticularis. VEXAS syndrome poses significant diagnostic challenges due to its overlap with hematologic, autoimmune, and inflammatory disease. Hallmark findings include macrocytic anemia, myeloid vacuolization, and the presence of UBA1 mutations. Current treatment options include corticosteroids, biologics, and hematopoietic stem cell transplantation, but data on long-term efficacy are limited. Advances in understanding the epidemiology, pathophysiology, and treatment of VEXAS syndrome will be essential for improving diagnostic accuracy and patient outcomes.

Abstract from PubMed