LEEDS, England — In 2020, British researchers identified a new, potentially deadly disease dubbed “VEXAS Syndrome” that affects men over 50. Considered rare at the time, doctors are now warning that ailment may be even more prevalent than initially believed.
VEXAS syndrome, an inflammatory condition, causes unexplained fevers, painful skin rashes and affects the bone marrow resulting in reduced number of red and white blood cells. Many patients may be left sick and fatigued without knowing they have the disease, and could have been given the wrong treatment, the study suggests. The disease only affects men as it is caused by genetic mutations on the X chromosome, which men carry only one of, that develop during the patient’s lifetime.
Now, new findings reveal additional genetic mutations which show new ways in which the disease can develop.
“In our new study, we screened a cohort of 18 local patients who matched the symptoms and found mutations in 10 of them. Eight had the known variant previously associated with the disease, but two patients had completely different variants,” explains Dr. James Poulter, an academic fellow in molecular neuroscience at the University of Leeds’ School of Medicine, in a statement. “This identified a new way in which the mutations can cause VEXAS, meaning it is likely to be much more common than we currently think.
Poulter wants healthcare providers to screen more patients for symptoms of VEXAS to better understand the condition and its prevalence.
“Most patients have had lots of tests, tried lots of treatments and have not been able to get an answer to what they have,” he says. “Now, by sequencing their DNA for mutations in the VEXAS gene, we can identify those patients who do have VEXAS and get them on the best treatment that is available. This could be a bone marrow transplant or switching to a different drug.”
Dr. Sinisa Savic, a clinical associate professor at the school, has been studying patients with the syndrome for years now. “Their care has been complicated by the fact that we did not have a diagnosis which made choosing their treatment and advising them about the prognosis very difficult,” he says. “Having established the cause of VEXAS we now have a real opportunity to transform the care of these patients. We know there are still many patients who have a VEXAS-like condition, but in whom we do not know the cause. We plan to continue our research in hope to discover other genetic causes of these disorders.”
The study is published in the journal Blood.
SWNS writer Joe Morgan contributed to this report.