Review Article on Vexas Syndrome

Abstract

VEXAS syndrome is a newly identified adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. It is characterized by systemic inflammation and hematological abnormalities, including macrocytic anemia, thrombocytopenia, and bone marrow vacuolation, predominantly affecting older males. The disease presents with multisystem involvement such as fever, skin lesions, chondritis, and pulmonary manifestations, often mimicking other conditions.

Its pathogenesis involves impaired ubiquitination leading to excessive inflammatory responses. Diagnosis requires clinical evaluation supported by genetic testing. Current treatment mainly relies on corticosteroids, with emerging therapies such as JAK inhibitors and IL-6 inhibitors showing promise. Hematopoietic stem cell transplantation remains the only potential curative option. Overall, early diagnosis and targeted therapies are essential to improve outcomes in this complex and high-risk condition.