An estimated 1 in about 13,500 people in the United States may have VEXAS syndrome, a new study suggests, which means the mysterious and sometimes deadly inflammatory disorder may be more common than previously thought.
David Adams spent half a decade fighting an illness he couldn’t name. He was in and out of the hospital several times per year. His inflamed joints made his hands feel like they had been squeezed into gloves – and he could no longer play his beloved classical and jazz guitars. He had constant fevers and fatigue. He even developed pain and swelling in his genitalia, which was his first sign that something was really wrong.
cases have been reported in medical research, but the study reveals new estimates of its prevalence. The research, published Tuesday in the journal JAMA, suggests that about 1 in 13,591 people in the US have mutations in the UBA1 gene, which develop later in life and cause patients in 2020. “The benefit of
. Among the 11 patients in the new study who had pathogenic variants in UBA1, only two were women. Seven had arthritis as a symptom, and four had been diagnosed with rheumatologic diseases, such as psoriasis of the skin or sarcoidosis, which causes swollen lumps in the body. All had anemia or low blood cell counts. “None had been previously clinically diagnosed with
syndrome, the data is not representative of the entire United States, and Beck said that more research needs to be done on a larger, more diverse group of people. Some men might be hesitant to seek medical care for
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