A new and scary syndrome.
Lung imaging (Photo: ShutterStock)
If you've never heard of VEXAS syndrome, it's not surprising.
Scientists did not recognize this inflammatory disease until 2020, CNN reported.
Now, research suggests that the syndrome is not as rare as first believed.
Researchers estimate that 15,500 people in the US over the age of 50 suffer from the syndrome, whose symptoms usually include unexplained fever, pneumonia, myeloma, arthritis, vasculitis, low blood oxygen levels, and more.
VEXAS syndrome (vacuoles, E1 enzyme, X- linked, autoinflammatory, somatic) usually affects older adults, mainly men, and symptoms of the condition usually develop between the ages of 50 and 70. The main source of concern is that VEXAS has a high mortality rate, with up to half of those diagnosed dying within five years. Researchers believe that VEXAS syndrome represents a prototype for a new type of diseases that humans face.
1 in every 4,000 men
"Now that we know that VEXAS syndrome is more common than many other types of rheumatologic conditions, physicians should add this condition to their list of potential diagnoses when faced with patients with persistent, unexplained inflammation and low blood cell counts, or anemia," says the study's lead investigator. Dr. David Beck of NYU Langone Health in a press release.
The research team, which published its findings in the journal JAMA, analyzed blood samples from more than 160,000 men and women over the age of 50 to look for a mutation in the UBA1 gene that researchers believe causes the syndrome.
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Routine tests.
Blood test (Photo: ShutterStock)
"It's present in 1 in 4,000 men over the age of 50, so we think it's a disease to think about when you encounter people who have the symptoms," Dr. Beck told CNN. Men are more vulnerable because the UBA1 gene is on the X chromosome: men have Only one X chromosome while females have two and are usually not affected unless the mutation is in both.
Although it is believed to be caused by a genetic mutation in the UBA1 gene, the disease is not passed on to children. There is no cure or even standard treatment because the syndrome is so new, but it is at least treatable in symptoms with certain medications.
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