Little-Known Syndrome More Common Than Realized

VEXAS is an inflammatory ailment with a high mortality rate that affects older men most often
By John Johnson,  Newser Staff
Posted Jan 29, 2023 9:10 AM CST
Little-Known Syndrome More Common Than Realized
Stock image of a person having their blood drawn.   (Getty / Nadya Tkach)

If you've never heard of VEXAS syndrome, it's little wonder: Scientists didn't recognize and describe the inflammatory ailment until 2020, reports CNN. Now, a follow-up study suggests the syndrome is not as rare as first believed. Researchers estimate that 15,500 people in the US over age 50 have the syndrome, whose symptoms usually include unexplained fevers and low blood oxygen levels, per IFLscience. The vast majority of patients, roughly 90%, are men. For context, the figure of about 15,000 is on par with the more well-known Huntington's disease. A big reason for concern is that VEXAS has a high mortality rate, with up to half of those diagnosed dying within five years..

"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,” says lead investigator Dr. David Beck of NYU Langone Health in a news release. The research team, which published its findings in the journal JAMA, analyzed blood samples of more than 160,000 men and women over age 50 to look for a mutation in the UBA1 gene believed to cause the syndrome.

“It’s present in 1 in 4,000 men over the age of 50, so we think it’s a disease that should be thought about in terms of testing for individuals that have the symptoms,” Beck tells CNN. Men are more vulnerable because UBA1 is on the X chromosome: Men have only one X chromosome while women have two and are usually unaffected unless the mutation is on both. Though it's believed to be caused by a genetic mutation, the ailment does not get passed on to children. No cure or even standard treatment exists because the syndrome is so new, but symptoms can at least be managed with certain medications. (More discoveries stories.)

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