For researchers, this new autoimmune disease remains a mystery. First identified in 2020, it is believed to be the Vexas syndrome it affects approximately 1 in 4,000 people in the United States, according to the results of a study published January 31, 2023, in the Journal of the American Medical Association.
Between rheumatology and hematology (medical specialty dedicated to blood diseases), this autoinflammatory disorder is linked to somatic mutations in a gene, UBA1. And it’s deadly: According to figures from the NYU Grossman School of Medicine, which conducted the study, up to “half of people, mostly men,” die within five years of diagnosis.
“Now that we know that Vexas syndrome is more common than many other types of rheumatic diseases, clinicians should add this condition to their list of potential diagnoses when faced with to patients with persistent and unexplained inflammation and low blood cell counts, or anemia“, says the geneticist and principal investigator of the study David B. Beck, in a statement.
Symptoms of Vexas syndrome
The first cases of Vexas syndrome were discovered in the midst of a pandemic. To detect it, the researchers analyzed the DNA and health data of 163,096 people, mostly white, including 1,477 patients hospitalized for recurrent fevers and systemic inflammationexplained Science and Future.
In total, twelve of them carried the same mutation in the UBA1 gene. These subjects exhibited symptoms ranging from fatigue to rashes to unexplained fevers and reduced blood oxygen levels. “They can also joint problems appear, such as arthritis, lung“, añade The Dispatch.
It should be noted that some patients also suffering from lupus, rheumatoid arthritis or leukemia. According to the scientists, the inflammation could be caused by an overactive immune system.
“Vexas syndrome has probably been around for a long time, but it was not identified as a disease in its own right until 2020 (…) This discovery allows us to better take into account a broad panel of patients suffering from rheumatological and hematological dysfunctions,” stated Dr. B. Beck to Science et Avenir.
An underdiagnosed disease
Often confused with lupus or leukemia, Vexas syndrome is much less rare than previously thought: 1 in 4,269 American men age 50 and older and 1 in 26,238 women age 50 and older have or are likely to have Vexas syndrome. In fact, it is more frequent than other more well-known conditions, such as vasculitis or myeloid dysplasia syndrome.
“At the moment, we know that Vexas syndrome can be partially controlled with specific treatments against cytokines,” reassures Dr. B. Beck, in statements to Science et Avenir. He also suggests that the administration of steroids and antirheumatic drugs, combined with chemotherapy and a bone marrow transplant, have been shown to be “effective in controlling certain symptoms.”
The researchers now plan to expand their investigation to a more diverse panel, including more patients with diseases rheumatology and blood
at Redacción Marie Claire
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