What is VEXAS syndrome?
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently discovered inflammatory disease caused by a somatic mutation in the UBA1 gene. Unlike inherited conditions, this mutation develops during a person's lifetime — it is not passed from parent to child.
Co-discovered in 2020 by Drs. David Beck and Peter Grayson at the NIH and published in the New England Journal of Medicine, VEXAS affects approximately 1 in 4,000 men over age 50 in the United States — making it more common than many well-known inflammatory conditions, yet still widely unrecognized.
Vacuoles — abnormal spaces seen in bone marrow cells
E1 enzyme — the UBA1 enzyme that is mutated
X-linked — the UBA1 gene is on the X chromosome
Autoinflammatory — the body attacks its own tissues
Somatic — the mutation happens during life, not inherited
Symptoms & Diagnosis
VEXAS can mimic many other conditions — which is why the average time to diagnosis is 3–5 years. Symptoms span multiple organ systems and vary significantly between patients.
Frequently misdiagnosed as: MDS (myelodysplastic syndrome), relapsing polychondritis, rheumatoid arthritis, Sweet syndrome, or other autoinflammatory conditions. If you've received one of these diagnoses with ongoing unexplained symptoms, ask your physician about UBA1 testing.
How is it confirmed? A genetic test of your blood checks for a pathogenic UBA1 mutation that confirms VEXAS syndrome. Testing is widely available, and our network of VEXAS medical centers provides specialized expertise for diagnosis, treatment, and ongoing care. Find a VEXAS medical center →
Treatment Landscape
There are currently no FDA-approved treatments specifically for VEXAS. Physicians use existing approved drugs off-label, while clinical trials work toward better options.
Often the first treatment used for inflammation control. Provides short-term relief but long-term use carries significant side effects including bone density loss and immune suppression.
A hypomethylating agent showing promise in patients who don't respond to steroids. Currently under study in a Phase II NIH clinical trial (view trial →).
Being studied for inflammatory suppression in VEXAS. Active trials ongoing at NYU Langone and Mayo Clinic. Results expected 2027.
Allogeneic stem cell transplant is the only known potential cure for VEXAS. It is not appropriate for all patients. Many patients in our community have navigated this decision — read their stories →
Treatment decisions should always be made in consultation with an experienced physician. VEXAS is complex and management varies significantly by patient. Consider seeking care at a VEXAS medical center.
Patient Stories
Real stories from people living with VEXAS — their journeys to diagnosis, their treatment decisions, and their lives today.
(with consent)
"After three years of unexplained fevers and being told nothing was wrong, I finally had an answer. Finding this foundation was the first time I felt like someone truly understood what I was going through."
(with consent)
"After my bone marrow transplant, I was terrified and didn't know what to expect. The Foundation's resources helped me understand the process and connected me with others who had been through it."
Frequently Asked Questions
Is VEXAS inherited? Can I pass it to my children?
Does VEXAS only affect men?
Why does VEXAS appear to affect fewer Black patients?
How do I get tested for VEXAS?
What is the prognosis for VEXAS?
Are there clinical trials I can join?
Resources
Curated resources for patients, caregivers, and healthcare providers.