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Uncovering VEXAS Syndrome: An Analysis of 163,096 American Patients

VEXAS syndrome is a rare disorder that affects the nervous system and has baffled the United States’ health services since 2020. The syndrome was a great mystery until the researchers’ work yielded results, uncovering its genetic origin in 2020.[0] A group from the NYU Grossman School of Medicine is currently disclosing more information regarding the condition, including its prevalence in the United States.[1]

In a study published in the Journal of the American Medical Association on January 24, 2023, researchers analyzed the electronic health records of 163,096 mostly white men and women in Pennsylvania who agreed to have their blood DNA screened for signs of genetic disease.[2] Out of twelve people, it was discovered that they all had the UBA1 mutation and were exhibiting VEXAS symptoms. Statistics show that among American men over age 50, one in 4,269 has or is likely to develop the syndrome, and among American women over age 50, one in 26,238 has or is likely to develop the syndrome.[3] Researchers state that the prevalence of this condition is greater than many other inflammatory conditions, such as vasculitis and myeloid dysplasia syndrome.[4]

Of the 11 participants in the new study, only two were female and had pathogenic variants in UBA1.[5] Of the seven people with arthritis, four had been diagnosed with related rheumatologic diseases, including psoriasis of the skin and sarcoidosis, which leads to swollen lumps in the body.[6] Everyone had anemia or a decrease in their blood cell count.[6]

At present, no cure exists for VEXAS syndrome; however, certain effects resulting from the condition can be alleviated with the use of steroids, which decrease inflammation, and immunosuppressants, which prevent the immune system from attacking healthy cells.[7] A bone marrow transplant may be beneficial to certain individuals who suffer from the illness.[0]

The authors of the study are hopeful that their discoveries will raise awareness of the disorder among medical professionals, particularly as treatments such as high-dose steroids, JANUS kinase inhibitors, and bone marrow transplantation have been seen to be effective in controlling some symptoms.[4]

Going forward, NYU researchers will analyze the records of a more racially-diverse patient sample, especially those with higher frequencies of rheumatologic and blood diseases, in order to create a more precise understanding of those who are most susceptible to VEXAS.[4]

0. “VEXAS Syndrome: Scientists identified auto-immune disease called VEXAS” Interesting Engineering, 26 Jan. 2023,

1. “Thousands suffer from mystery illness called VEXAS syndrome” The News International, 26 Jan. 2023,

2. “Mystery Illness Found To Affect More Than 15K People In The US, Mostly Men: Report” Revyuh, 24 Jan. 2023,

3. “Newly Discovered Disease May Affect Over 15,000 Americans | Health |” Corydon Times, 24 Jan. 2023,

4. “Study Estimates Number of People Afflicted with Previously Unknown Illness” Inside Precision Medicine, 25 Jan. 2023,

5. “VEXAS syndrome ‘more common than expected'” Healio, 24 Jan. 2023,

6. “Recently identified inflammatory disease VEXAS syndrome may be more common than thought, study suggests …” KION, 24 Jan. 2023,

7. “What Is VEXAS Syndrome? The ‘Mystery Illness” Could Affect Thousands” Self, 25 Jan. 2023,

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