Study Predicts Higher Prevalence of VEXAS Syndrome
26 Jan 2023
Clinical StudyClinical Result
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A study published Tuesday in JAMA revealed a little-known syndrome with a high mortality rate has a higher prevalence than previously thought.
VEXAS was first identified in 2020, and patients exhibit unexplained fevers, anemia and inflammation. The lead investigator for the study, David Beck, M.D., Ph.D., also led the team that initially identified the UBA1 gene mutation shared amongst VEXAS patients.
His team utilized that knowledge to screen the blood DNA records of 163,096 consenting patients in the Pennsylvania healthcare system. The UBA1 mutation was found in nine males and two females.
While these figures maintain the disease's rare status, the previous 2020 findings identified 25 men and no women in the U.S. with the condition. This new study, led by researchers at NYU Grossman School of Medicine, suggests the rare condition is more vexing than originally thought – 1 in 4,269 men and 1 in 26,238 women, over 50.
Mayo Clinic rheumatologist Matthew Koster, M.D., called the findings “remarkable.”
“Is VEXAS really more common than we think, with patients hiding in plain sight? And the answer is yes.”
Proving the greater prevalence in men is of particular importance as that population carries the higher mortality rate. Up to half of people diagnosed with VEXAS, mostly men, die within five years.
The study's participants lacked diversity – 94% were white and 61% were female, all based in Pennsylvania. The team plans to analyze more racially diverse groups and look for additional genetic causes.
The team said they believe their findings will raise awareness of the disease to increase accurate diagnoses and open avenues for new therapies. Development of a simple blood test for the UBA1 mutation is also on the to-do list, to make for an easier, earlier diagnosis.
Current treatments for the disease include high-dose steroids, JANUS kinase inhibitorsJANUS kinase inhibitors and bone marrow transplants to control symptoms.
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