Hematology AdvisorPrevalence of VEXAS Syndrome Identified in US Health System

The researchers discovered that 11 of the participants had likely somatic variants at known pathogenic UBA1 positions, and all 11 had clinical symptoms consistent with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome. Five people (45 percent) did not meet the criteria for previous rheumatologic and/or hematologic diagnoses associated with VEXAS syndrome, but all 11 had anemia, which was macrocytic in 10 people and had concomitant thrombocytopenia in 10 people. One male patient had a pathogenic variant identified prior to the onset of VEXAS-related signs or symptoms, and two female patients had disease caused by heterozygous variants. A previously unreported UBA1 variant was found in one symptomatic patient, with in vitro data supporting a catalytic defect and pathogenicity. Disease-causing UBA1 variants were found in one of 13,591 unrelated individuals, as well as in one of 4,269 men and one in 26,238 women over the age of 50.