New disease more common than expected and 'quite severe,' experts warn.
Jan. 25, 2023 – A recently discovered inflammatory disease known as VEXAS syndrome is more widespread and dangerous than previously understood,. While it's rare, researchers believe the disease may affect tens of thousands of men in the U.S. and may frequently go undiagnosed.
Researchers first described VEXAS syndrome in 2020 and gave it its name, which stands for several of its traits – vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic. The disease is linked to a gene mutation that seems to disrupt how the body identifies dysfunctional proteins so they can be eliminated.
Patients with the condition"have a variety of clinical symptoms affecting different parts of the body and are being managed by different medical specialties." According to Beck, who helped discover the disease, hundreds of people have been diagnosed with VEXAS syndrome in the short time since it was defined. The disease is believed to be fatal in some cases.
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