Researchers are shedding light on VEXAS syndrome, a mysterious medical ailment believed to impact around 15,000 people in the United States. As per US News, VEXAS syndrome, identified in 2020, is a rare, genetically related condition with a high mortality rate.
The syndrome is characterized by inexplicable fevers and low blood oxygen levels in patients with rheumatoid arthritis, lupus, or blood malignancy. Linked to inflammation and an overactive immune system, it is an autoimmune disorder.
“Now that we know VEXAS syndrome is more prevalent than many other types of rheumatologic conditions, physicians must add this condition to the list of potential diagnoses for patients with persistent and unexplained inflammation and low blood cell counts or anemia,” said a geneticist and study lead investigator Dr. David Beck.
In New York City, he is an assistant professor in the departments of medicine and biochemistry and molecular pharmacology at NYU Langone Health.
Beck also led the federal research team that uncovered the VEXAS patients’ shared UBA1 mutation. Beck stated in an NYU Langone Health news release, “Our study provides the first indication of how frequent VEXAS syndrome is in the United States, particularly among men, who are also the most [most] to die from it.”
For the new study, the researchers studied the electronic health records of almost 163,000 Pennsylvanian men and women, the majority of whom were white. Participants agreed to have their blood examined for hereditary illness markers using DNA. Twelve individuals were discovered to have the UBA1 mutation.
All twelve exhibited VEXAS symptoms. This equates to 1 in over 4,200 American men over the age of 50 and 1 in over 26,200 American women over the age of 50 developing VEXAS. On this basis, researchers concluded that the syndrome might be more common than other inflammatory disorders, such as vasculitis and myeloid dysplasia syndrome.
VEXAS represents several of its traits, including vacuoles in blood cells, the E1 enzyme, being X-linked, being autoinflammatory, and being somatic.
An estimated 13,200 men and 2,300 women have VEXAS syndrome. According to the study, up to half of patients, primarily men, die within five years of diagnosis. High-dose corticosteroids, JANUS kinase inhibitors, and bone marrow transplantation may aid with symptom management.
The results were published online in Journal of the American Medical Association on January 24. The U.S. National Institutes of Health provided funding for the study.
