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A new disease called VEXAS syndrome may afflict as many as 15,500 U.S. residents over the age of 50, according to a new study. That’s about 13,200 men and 2,300 women affected by the syndrome that was discovered only in 2020, according to a new study by researchers at New York University Grossman School of Medicine and published this week in the Journal of the American Medical Association.
“The rare syndrome carries a high mortality rate, with up to half of people, mostly men, dying within five years of diagnosis,” according to a news release from NYU Grossman School of Medicine. “The syndrome most often involves unexplained fevers and low blood oxygen levels in people diagnosed with other diseases, such as rheumatoid arthritis, lupus, and blood cancer such as leukemia.”
“Now that we know VEXAS syndrome is more common than many other types of rheumatologic conditions, 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 levels, or anemia,” Dr. David B. Beck, a geneticist and the study’s lead investigator, says in a statement.
Beck is an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology at NYU Langone Health and director of NYU Langone’s clinical Inflammatory Disease Genetics Program. Here’s what to know about VEXAS syndrome and the signs and symptoms to watch for.
“VEXAS syndrome is a newly described disease that was first identified through the National Institutes of Health and described in late 2020,” says Dr. Matthew Koster, a clinical rheumatologist at the Mayo Clinic in Rochester, Minnesota. “This condition, although new, is something that is being identified quite readily now that we’re able to recognize the phenotype of patients, which is very important for providers to be aware of.”
“VEXAS was long considered a mystery illness until its genetic basis was identified in 2020, and the latest findings offer the first indication of how common the illness is domestically,” says the NYU Grossman School of Medicine.
VEXAS is an acronym for the syndrome’s biological characteristics.
Vacuoles in blood cells.
E1 enzyme.
X-linked, meaning the gene is on the X chromosome.
Autoinflammatory
Somatic.
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“Our 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,” Beck says.
In the latest study, researchers analyzed the electronic health records of 163,096 mostly white men and women in Pennsylvania. Twelve were found to have a UBA1 genetic mutation, and all had VEXAS symptoms. Extrapolated, that meant one in 4,269 American men over age 50 and one in 26,238 women over age 50 were likely to develop the syndrome.
Symptoms of VEXAS syndrome vary and affect multiple organ systems, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases.
The inflammatory symptoms include skin rashes, pain and swelling in the ear and nose, cough and shortness of breath, swelling and pain in the joints, and inflammation of the blood vessels.
Other symptoms include fever and extreme fatigue; anemia, low platelets and blood clots; polychondritis; polyarteritis nodosa; sweet syndrome; and myelodysplastic syndrome, the institute says.
“It’s been difficult to identify these patients because sometimes they will have features suspicious of other rheumatic diseases, but do not fully fit those characterizations,” Kloster says. He adds: “They will also end up having a lot of symptoms like fever or chills or night sweats or weight loss. Some of them may also have eye inflammation, either swelling around the eyes or swelling of the outer portion of the eye itself.”
A physician diagnoses VEXAS syndrome with genetic testing, which looks for mutations in the UBA1 gene on the X chromosome.
No standardized treatment yet exists for VEXAS syndrome, but high-dose steroids, JANUS kinase inhibitors and immunosuppressants can treat inflammatory symptoms. Bone marrow transplants may also be indicated.
A team of doctors, including a rheumatologist and hematologist, may be required as the disease affects multiple organ systems, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases
If you are concerned that you have symptoms of VEXAS syndrome, consult your doctor and get a genetic test, which is conclusive.
“It’s actually quite easy to spot VEXAS syndrome amongst patients with relapsing polychondritis based on three or four easily measured variables,” says Dr. Peter Grayson, chief of the Vasculitis Translational Research Program and acting director of the Rheumatology Fellowship Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases.
“If the patient is male, and they have certain specific blood count abnormalities, this should clue a doctor in,” Grayson adds. “And also, older patients. So patients that get relapsing polychondritis when they’re 50 years or older are also at increased risk for possibly having this genetic disease, VEXAS syndrome.”
