Tag: VEXAS

New deadly disease dubbed VEXAS gives men fevers, blood clots, and inflammation

Strange Sounds – October 28, 2020

There are likely hundreds of men in the United States, if not more, who suffer from a just-discovered genetic disease that causes symptoms including blood clots in veins, recurrent fevers, lung system abnormalities, and — in 40% of patients — death. 

Researchers from the National Institutes of Health discovered the disease, named VEXAS, by working backwards: Rather than grouping people with similar symptoms and searching for biological explanations, they searched the genetic makeup of 2,500 people for variations that could be linked to the wide-ranging symptoms of their undiagnosed inflammatory conditions.

“We had many patients with undiagnosed inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose them,” said Dr. David B. Beck, clinical fellow at NHGRI and lead author of the paper.

“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.“

Using that method, the scientists eventually identified three middle-aged men who all had the same mutations in a gene called UBA1. They later discovered 22 other men with the same mutations and similar symptoms, like blood clots and fevers.

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).

The researchers 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.

https://strangesounds.org

Scientists discover ‘devastating’ NEW genetic disease that’s killed 40% of known patients by attacking lungs and immune system

RT – November 1, 2020

The new condition, which is caused by genetic mutations, has shown a particularly high death rate, as patients were not responding to any currently available treatments, the researchers said.

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.”

https://www.rt.com