VEXAS syndrome, a mysterious illness that puzzled the medical community for years, finally had its genetic basis uncovered in 2020. The latest study, conducted by leading researchers at NYU Grossman School of Medicine, provides the first insight into how prevalent the illness is in the United States.

A new study estimates that approximately 13,200 men and 2,300 women over the age of 50 in the United States have VEXAS syndrome. The illness, which was previously a mystery until its genetic basis was discovered in 2020, is considered rare but carries a high mortality rate, with up to half of those diagnosed, mostly men, dying within five years.

These findings, led by researchers at NYU Grossman School of Medicine, provide the first understanding of the prevalence of this disease in the domestic population.

The VEXAS syndrome typically presents as unexplained fevers and low blood oxygen levels in individuals diagnosed with other diseases such as rheumatoid arthritis, lupus, and blood cancer. Some symptoms have been linked to an overactive immune system, leading to inflammation and classifying the syndrome as an autoimmune condition.

The researchers behind the study hope that their findings will increase awareness of the disorder among physicians, especially as high-dose steroids, JANUS kinase inhibitors, and bone marrow transplantation have been found to be effective in managing some symptoms.

“Now that we know VEXAS syndrome is more common than many other types of rheumatologic conditions,” lead researcher David Beck adds, “physicians need to add this condition to their list of potential diagnoses when confronted by patients with persistent and unexplained inflammation and low blood cell counts, or anemia.”

The new study, which was published today in the Journal JAMA, examined the electronic health records of 163,096 Pennsylvanian men and women, the majority of whom were white, who consented to having their blood DNA tested for signs of genetic disease. Twelve individuals were identified to carry the UBA1 mutation, and they all had VEXAS symptoms.

According to statistics, this translates to one in 26,238 American women and one in 4,269 American males over 50 having or at risk of developing the condition. This prevalence rate, according to experts, is greater than that of many other inflammatory diseases, such as vasculitis and myeloid dysplasia syndrome.

This new “study offers the first glimpse of just how common VEXAS syndrome is in the United States, particularly among men, who also happen to be the most to die from it,” according to Beck.

Beck’s earlier research found that the syndrome was caused by a mutation, or change in the DNA code, in the gene UBA1 (short for ubiquitin-like modifier activating enzyme 1.) Usually, the enzyme helps break down proteins.

Many of its biological traits are represented by the acronym VEXAS, including vacuoles in blood cells, the E1 enzyme, X-linked, autoinflammatory, and somatic.

For the study, researchers looked at the electronic medical records of adults who volunteered to take part in the Geisinger MyCode Community Health Initiative. Patients in Geisinger’s 10+ hospitals in Central and Northeastern Pennsylvania have been giving information to the program for more than 25 years. Almost all of the people who agreed to have their blood tested for DNA were white, and half of them were over 60 years old.

In order to get a more accurate picture of who is most at risk for VEXAS syndrome, Beck says the team intends to examine patient records in more ethnically varied populations, particularly in those with greater rates of rheumatologic and blood disorders. They also want to find more genetic causes, try out new treatments for the syndrome, and make it easier to diagnose UBA1 by making a simple blood test.

Image Credit: ANGELA WEISS/AFP via Getty Images



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