The recently discovered VEXAS syndrome may be more common than initially determined, according to an article published in Healthline. Named after its genomic factors—vacuoles in blood cells, the E1 enzyme, X-linked, autoinflammatory, and somatic—the syndrome is most often a comorbidity of rheumatoid arthritis, lupus, and hematologic malignancies. First described in 2020, the disease was found to be rare. However, in a new study published by Beck et al in JAMA Network, researchers discovered that among 163,096 patients, 12 of them presented with the UBA1 mutation attributed to the syndrome. The findings suggested that VEXAS syndrome may be present in .023% (n = 1/4,269) of male individuals and .004% (n = 1/26,238) of female individuals aged over 50 years and is grossly underdiagnosed. Researchers noted that the syndrome can often be mistaken for other rheumatic conditions but stressed that it is far more severe—with a current 5-year survival rate of 50%. Characterized by hematologic and inflammatory symptoms—including fevers, skin rashes, fatigue, shortness of breath, coughing, ear and nose pain and swelling, joint swelling, low blood oxygen levels, low blood platelets, blood clots, and anemia—VEXAS syndrome requires a genetic test to diagnose. Though clinical trials are still underway to determine whether stem cell transplants may be a viable treatment option for patients with VEXAS syndrome, researchers currently recommend treating the disease with steroids to manage inflammation, immunosuppressants, or bone marrow transplants in the case of bone marrow failure.
May 25, 2023