Medical University of Innsbruck identifies high-risk group for VEXAS syndrome

Researchers at the Medical University of Innsbruck have identified a specific high-risk group for VEXAS syndrome, a rare multisystem autoinflammatory disease. The study, which involved an analysis of bone marrow samples over 18 months, could lead to faster and easier diagnoses.

VEXAS syndrome is caused by a mutation in the UBA1 gene located on the X chromosome. This mutation triggers the immune system to cause inflammation despite the absence of external triggers like bacteria or viruses. The condition primarily affects older men, typically appearing after age 50, because they possess only one X chromosome.

The study found that individuals exhibiting both monoclonal gammopathy (excess protein production due to blood changes) and macrocytosis (enlarged red blood cells) were significantly more likely to have the mutation. In the studied patient group, the syndrome was present in approximately 7.7 percent of samples, or one in every 13 samples, which is a notably higher frequency than in unselected populations. Symptoms often include fever, fatigue, skin rashes, and lung issues.