Study shows VEXAS syndrome more common than expected

DANVILLE, Pa. – VEXAS syndrome, a genetic disease that causes a variety of inflammatory and blood conditions, is more common than originally expected, a new study shows.

VEXAS syndrome, first described in 2020, is caused by variants in the UBA1 gene and can present in adulthood with a number of inflammatory symptoms, including skin rashes, swelling and pain in the joints, or inflammation of the lungs and blood vessels; along with blood conditions like anemia, blood clots or low platelet counts.

In the most recent study, published in the Journal of the American Medical Association (JAMA), a research team from Geisinger and the National Institutes of Health National Cancer Institute analyzed genomic and electronic health record data for 163,096 participants enrolled in Geisinger’s MyCode Community Health Initiative. Of this group, 1 in 13,591 had a disease-causing variant of the UBA1 gene. All of these patients had anemia, along with a spectrum of other autoimmune, pulmonary and skin-related symptoms characteristic of VEXAS syndrome.

The study results show that VEXAS syndrome is more common than originally thought in both men and women, and the research team encourages more widespread testing for UBA1 variants in people with non-specific inflammatory conditions and anemia.

“This study is a great example of how important questions about the prevalence and health effects of a recently described, but not well understood, disease can be answered using genetic and health data from patients who consented to participate in MyCode,” said David J. Carey, Ph.D., professor and research director at Geisinger and a lead author of the study.  

Additional research in diverse populations is needed to better define the prevalence and characteristics of the disease, the team wrote.

About Geisinger
Geisinger is among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the non-profit system generates $10 billion in annual revenues across 134 care sites - including 10 hospital campuses, and Geisinger Health Plan, with 600,000 members in commercial and government plans. The Geisinger College of Health Sciences educates more than 5,000 medical professionals annually and conducts more than 1,400 clinical research studies. With 26,000 employees, including 1,600 employed physicians, Geisinger is among Pennsylvania’s largest employers with an estimated economic impact of $14 billion to the state’s economy. On March 31, 2024, Geisinger became the first member of Risant Health, a new nonprofit charitable organization created to expand and accelerate value-based care across the country.  Learn more at geisinger.org or connect with us on Facebook, Instagram, LinkedIn and X.