Newly identified disease far more common than first thought finds Leeds research

A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds.

Having established the cause of VEXAS, we now have a real opportunity to transform the care of these patients.

DR SINISA SAVIC, SCHOOL OF MEDICINE

VEXAS syndrome is a serious inflammatory condition that develops in men over 50, causing them to become very sick and fatigued, and can be fatal. It was originally thought to be rare, but a new study has identified genetic mutations which indicate that the disease is actually much more common. 

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The researchers developed a genetic test to identify patients who may have the disease, and now want to screen more people showing symptoms to understand exactly how common it is. 

VEXAS syndrome causes unexplained fevers, painful skin rashes and affects the bone marrow resulting in a reduced number of red and white blood cells. The disease affects only men because it is caused by genetic mutations on the X chromosome, and men carry only one X chromosome. The mutations are not present at birth, but develop during the patient’s lifetime.