Researchers discovers new inflammatory disease VEXAS that causes blood clots in veins


Almost 125 million people in the United States are living with some type of chronic inflammatory disease. However, researchers are having a hard time diagnosing their specific health condition because they are experiencing overlapping symptoms.

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Research scientists at the National Institutes of Health (NIH) addressed the challenge by taking a different or unique approach.

In a report published in the New England Journal of Medicine, the research scientists disclosed that they found a new inflammatory condition called vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome (VEXAS). 

VEXAS causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities, and vacuoles (unusual cavity-like structures) in myeloid cells.

How did the NIH research scientists discover this new inflammatory disease?

The Genome Link

Instead of focusing on the symptoms of patients with undiagnosed inflammatory disease, the NIH researchers studied the genome sequences obtained from more than 2,500 individuals with undiagnosed inflammatory diseases. The researchers paid special attention to a set of 800 genes related to the process of ubiquitylation, which helps regulate both various protein functions inside a cell and the overall immune system.