NHLBI IN THE PRESS

Researchers study prevalence of VEXAS, a rare inflammatory condition

An image of DNA is shown.

A rare condition called VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, Somatic) syndrome was first discovered in 2020. About 1 in every 13,591 adults may have the condition, according to research published in JAMA.

VEXAS results from a mutation in the UBA1 gene, which can create a cascade of symptoms. Common symptoms might include rashes, joint pain, anemia, and having a low blood cell count. Middle-aged to older men are more likely to have VEXAS. Based on a review of health records of more than 160,000 adults, VEXAS occurred in 1 out of every 4,269 men older than age 50. 
The authors conclude more research is necessary to estimate the prevalence of VEXAS.

Additionally, they encourage physicians to screen adults for the genetic mutation if they have related symptoms. The study was partially supported by NIH.