A recently discovered rheumatological disorder called vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, has been found to affect more than 15,000 people in the USA and has garnered a lot of interest due to its high morbidity and mortality. VEXAS syndrome is a rare genetic disorder caused by mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. Males are more commonly affected by this disease than females, and it is estimated that more than 50% of the affected population die within the first five years of diagnosis.
Treatment options include high-dose steroids , immunosuppressants, JAK inhibitors, and bone marrow transplantation . Should VEXAS syndrome be included in the differential of patients presenting with hematological symptoms and joint inflammation? ##Suggested readings:## A Novel Copper Metabolism…
