The disorder, vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, was a mystery illness until its genetic basis was identified less than three years ago.

Before the adoption of the genotype-driven approach, physicians thought people with VEXAS had unrelated adult-onset inflammatory syndromes because the condition causes a range of symptoms. Patients with the syndrome develop inflammatory symptoms including skin rashes, cough, and joint pain.

While the syndromes were seemingly unrelated, a paper published late in 2020 showed that all of the conditions are caused by mutations in the UBA1 gene located in the X chromosome. The discovery has spurred research to understand the incidence of VEXAS and identify effective therapeutic strategies.

A team at NYU Grossman School of Medicine shared their contribution to the effort on Tuesday. The researchers analyzed the electronic health records of 163,096 mostly white people in Pennsylvania who agreed to have their blood DNA screened for signs of genetic disease.

Analysis of the blood samples from the Geisinger MyCode Community Health Initiative, a program that has collected data for more than 25 years, identified 12 people with the UBA1 mutation, all of whom had symptoms of VEXAS. Extrapolating from the dataset, the researchers calculated that VEXAS may affect 1 in every 4,269 men ages 50 and older in the U.S., a frequency that suggests 13,200 people may have the condition. The syndrome is rarer in women. Around 2,300 women in the U.S. are thought to have VEXAS.

Dr. David Beck, the lead investigator on the study and an assistant professor at New York University Langone Health, explained the importance of the findings for the care of adult-onset inflammatory syndromes in a statement.

"Now that we know VEXAS syndrome is more common than many other types of rheumatologic conditions, physicians need to add this condition to their list of potential diagnoses when confronted by patients with persistent and unexplained inflammation and low blood cell counts, or anemia," he said.

Diversity is one limitation of the dataset as almost all of the participants who agreed to have their blood DNA tested were white. Beck and his collaborators now plan to analyze more diverse patient populations, particularly those with higher rates of rheumatologic and blood disease.

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