• VEXAS Syndrome: A Newly Found Genetic Puzzle
- Imagine your body’s immune system is like a security team, meant to protect you from germs.
- Now, what if some guards suddenly started attacking the very building they’re supposed to protect? That’s similar to what happens in VEXAS syndrome, a serious inflammatory disease discovered only in 2020.
It primarily affects men over 50 and is caused by a genetic mutation in the UBA1 gene. This isn’t a gene you’re born with a defect in; it’s a mutation that happens later in life. This faulty gene causes some of the body’s own immune cells to go rogue, leading to widespread inflammation. Patients often suffer from unexplained fevers, painful skin rashes, shortness of breath, and inflammation of their cartilage, particularly in the ears and nose. Because it was only recently identified, many people with VEXAS were previously misdiagnosed or told their illness was a mystery. Its discovery is a huge step forward in understanding autoinflammatory diseases.
