15,500 US adults have newly discovered illness, NYU Langone study suggests

Researchers at NYU Grossman School of Medicine in New York City estimate about 13,200 men and 2,300 women over the age of 50 in the U.S. have a rare syndrome called VEXAS — a deadly disorder that's associated with unexplained fevers and low blood oxygen levels in people with other diseases. 

The condition was considered a mystery illness until 2020, when its genetic basis was identified, according to a Jan. 24 news release from NYU Langone Health. The latest findings are the first indication of how common the autoimmune condition is in the U.S. Up to half of patients die within five years of diagnosis. It's usually diagnosed in people with other diseases, including rheumatoid arthritis, lupus and blood cancer. 

For the latest findings, published Jan. 24 in JAMA, researchers looked at EHR data from more than 163,000 people in Pennsylvania, most of whom were white. Participants agreed to have their blood DNA screened for signs of genetic disease, and 11 were found to have the UBA1 mutation that researchers first identified as the syndrome origin in 2020. All 11 of the participants with the mutation had symptoms of VEXAS. 

"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 levels, or anemia," David Beck, MD, PhD, a geneticist at NYU Langone Health and lead study investigator, said in a news release.

Researchers hope the findings will raise awareness of VEXAS among physicians and help match patients to treatments such as high-dose steroids and Janus kinase inhibitors, which have shown to be effective in controlling certain symptoms. 

View the full study here

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