What is VEXAS syndrome, inflammatory disease affecting men?

Scientists at the US’ National Institutes of Health discovered a life-threatening inflammatory disease affecting men known as the VEXAS syndrome, which is caused by mutations in the UBA1 gene.

Researchers studied the genome sequences from more than 2,500 individuals with undiagnosed inflammatory diseases.

As reported by DNA, 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.

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 to pop up sometime during the patient’s life, rather than at birth).

They suspect VEXAS has only been found in men because it’s linked to the X chromosome, of which men only have one. Women’s additional X chromosome, they hypothesize, could be protective in this case.