Scientists have discovered a new disease, its mortality rate is 40%. To find it, the researchers compared genes associated with inflammation with a list of people with unreported diseases.
An international group of researchers reported the discovery of a new genetic disease, according to their data, in 40% of cases it leads to death. In this case, the disease is accompanied by inflammation, thrombosis and fever. Details of the study can be read in the scientific journal The New England Journal.
The disease was named VEXAS after the first letters of the key concepts associated with it (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic).
VEXAS cause mutations in the UBA1 genes. Scientists note that the disorder they discovered explains the appearance of inflammatory syndromes in adults, which medicine had not previously associated with each other.
“This is a very serious illness, patients do not respond to any treatment – from high doses of steroids to various chemotherapies,” the researchers note. They added that many patients had spent years visiting doctors but were never able to answer their concerns. “It is incredibly frustrating for these patients and terrifying for their families.”
The team began searching for the disease with a list of more than 800 genes associated with inflammation, then compared those genes to an estimated 2,500 patients in a database of undiagnosed diseases. This method brought them to three men who were found to have the same mutation in the gene.