Thousands suffer from mystery illness called VEXAS syndrome

About 13,200 men and another 2,300 women in the United States over age 50 are estimated to have VEXAS syndrome, according to a new study. Long considered a mystery illness until its genetic basis was identified in 2020, the latest findings, led by researchers at NYU Grossman School of Medicine, offer the first indication of how common the illness is domestically.

Although a rare disorder, the syndrome carries a high mortality rate, with up to half of people, mostly men, dying within five years of diagnosis. The syndrome most often involves unexplained fevers and low blood oxygen levels in people diagnosed with other diseases, such as rheumatoid arthritis, lupus, and blood cancer. Some of the symptoms have been linked to an overactive immune system, which can cause inflammation and classifies the syndrome as an autoimmune condition.

Reference:

Beck DB, Bodian DL, Shah V, et al. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. DOI:10.1001/jama.2022.24836