What is VEXAS syndrome? Know all about new life-threatening, rare and deadly inflammatory disorder in men
It was also reported that the syndrome doesn't appear to occur until adulthood, and has been found only in men.
Scientists at the National Institutes of Health have discovered a rare and deadly inflammatory disease affecting men called the VEXAS syndrome.
According to a report in NBC News, the revelation about this syndrome was published on Tuesday in the New England Journal of Medicine that might help to find effective therapies for the disease, which has killed 40 percent of known patients so far.
What is VEXAS Syndrome? Symptoms, Causes, Study
Those who are affected by the VEXAS Syndrome have an "autoinflammatory condition", with symptoms such as unexplained fevers, blood clots, and inflammation of the cartilage, lung tissue, and blood vessels. When blood vessels are inflamed, it can affect the body's indispensable organs.
Dr. Dan Kastner, a senior author of the article and scientific director of the Intramural Research Program at the NIH's National Human Genome Research Institute, speaking about the syndrome said, "These patients are really sick. They don't respond to any treatments, from high doses of steroids to various chemotherapies."
Meanwhile, Dr. David B. Beck, a clinical fellow at NHGRI and lead author of the paper said in a statement, "We had many patients with undiagnosed inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose them. That's when we had the idea of doing it the opposite way. Instead of starting with symptoms, start with a list of genes. Then, study the genomes of undiagnosed individuals and see where it takes us."
Insider reports that the research team named the disease VEXAS after its key characteristics, "vacuoles (unusual cavity-like structures in certain cells), E1 enzyme (which is related to UBA1), X-linked (per the chromosome it's connected to), autoinflammatory (meaning the immune system accidentally attacks the body) and somatic (since the condition seems ot pop up sometime during the patient's life, rather than at birth)."
It was also reported that the syndrome doesn't appear to occur until adulthood, and has been found only in men. One of the reasons why it affects males is because the mutation is linked to the X chromosome. Men have only one X chromosome, while women have two.
On the basis of this, researchers feel that the additional X chromosome in females could somehow reverse the mutation and provide a protective effect.