The disease – ‘vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome’ – has been dubbed VEXAS. It causes symptoms that include blood clots in veins, recurrent fevers, abnormalities in the lungs, and vacuoles – unusual cavity-like structures – in the myeloid cells, which play a crucial part in the human immune system.
Researchers at the US National Institutes of Health (NIH) came across the disease after analyzing the genome sequences of more than 2,500 people with undiagnosed inflammatory diseases. In comparing the data, they found that 25 adult males had particular mutations in the UBA1 gene, which is believed to be the source of VEXAS.
“Instead of looking at clinical similarities, we were instead taking advantage of shared genomic similarities that could help us discover a completely new disease,” said Daniel Kastner, the scientific director of the Intramural Research Program at the National Human Genome Research Institute.
The NIH reported that the new disease “can be life-threatening,” as 40 percent of the VEXAS patients the researchers studied have died. The high death toll revealed “the devastating consequences of the severe condition,” the team stated.
Kastner told NBC News that patients with VEXAS become “really sick,” and “don’t respond to any treatments, from high doses of steroids to various chemotherapies.”