Study shows VEXAS syndrome more common than expected
Researchers recommend more widespread screening for UBA1 gene variants in people
with associated inflammatory and blood conditions
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.
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