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HomeHealthVEXAS Syndrome, what is it?

VEXAS Syndrome, what is it?

TARLAKENYO (Jan. 28, 2023) — A new study suggests that VEXAS syndrome, an autoimmune disease that mostly affects the bone marrow and blood, may be more frequent than previously believed, particularly in males over the age of 50.

A somatic mutation in the bone marrow’s UBA1 gene, which implies that VEXAS syndrome is acquired over the course of a person’s lifetime rather than inherited, was first discovered in late 2020. Multiple organs, including the skin, lungs, joints, and blood vessels, can become inflamed as a result of the illness.

The goal of the new study, which was published this week in the Journal of the American Medical Association (JAMA), was to determine the prevalence of VEXAS syndrome in the population of the United States because it is a relatively recent disorder.

Researchers came to the conclusion that it may afflict as many as one in 4,269 males and one in 26,238 women in the U.S. who are both over 50, which is far higher than was anticipated for a newly identified ailment.

According to Peter Grayson, MD, principal investigator of the National Institute of Arthritis, Musculoskeletal, and Skin Diseases vasculitis translational research program, “most newly discovered diseases at the National Institutes of Health are very, very rare diseases that a doctor may never see in their lifetime.” “This one is a little unique. Even though it’s a rare condition, this one is really turning out to be more frequent than expected.

In the latest study, scientists searched for the UBA1 gene variation linked to VEXAS syndrome by analyzing genetic information from more than 163,000 people inside the Geisinger health system in Pennsylvania.

According to David Beck, MD, PhD, assistant professor at New York University’s Grossman School of Medicine and co-author of numerous studies on VEXAS syndrome, “We took the approach of looking at every individual in their database, in their health system, that had mutations in UBA1 and looked at how common they were, what symptoms patients had, and what diagnoses they had.”

In the latest study, scientists searched for the UBA1 gene variation linked to VEXAS syndrome by analyzing genetic information from more than 163,000 people inside the Geisinger health system in Pennsylvania.

According to David Beck, MD, PhD, assistant professor at New York University’s Grossman School of Medicine and co-author of numerous studies on VEXAS syndrome, “We took the approach of looking at every individual in their database, in their health system, that had mutations in UBA1 and looked at how common they were, what symptoms patients had, and what diagnoses they had.”

Since the symptoms of rheumatologic disorders can alter over time, it wasn’t immediately evident that these individuals had the same symptoms, according to Dr. Beck, who spoke to Health. But as soon as we had a sufficient number of patients, we discovered that their symptoms and clinical manifestations had a lot of commonalities.

The results of that study, which were published in December 2020 in the New England Journal of Medicine, provided a conclusive diagnosis for the 25 patients seeking answers as well as the name VEXAS syndrome, an acronym for the disease’s key symptoms: vacuoles (in the bone marrow cells), E1 enzyme, X-linked, autoinflammatory, and somatic.

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