VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. Mostly affecting men over age 50, VEXAS is caused by somatic mutations in the UBA1 gene of blood cells, which is a gene located in the X chromosome.
Until just a few years ago, patients presenting with features of VEXAS syndrome were not unified under a specific diagnosis. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was discovered at the National Institutes of Health (NIH) in 2020. A whole exome study investigated patients with an array of adult-onset inflammatory syndromes, discovering a link between previously unrelated complex disorders.
The UBA1 mutation responsible for VEXAS causes the development of painful inflammatory symptoms that can affect the skin, ears, nose, lungs, joints, and vascular system. Hematologic conditions commonly occur, including blood clots, macrocytic anemia, bone marrow abnormalities, and an association with hematologic neoplasms.
“These patients can present on either end of that spectrum with features that look like a complex inflammatory disorder or findings that may suggest a bone marrow cancer,” says David Viswanatha, M.D., co-director of the Molecular Hematopathology Laboratory at Mayo Clinic. “Once VEXAS was identified at the NIH, doctors at Mayo Clinic became very interested in this entity and were seeing patients who they suspected had VEXAS, yet we had no test available.”
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