• VEXAS syndrome is a rare, serious autoinflammatory disorder first identified by the National Institutes of Health in October 2020.

  • It is caused by an acquired (not inherited) mutation in the UBA1 gene on the X chromosome, affecting blood and immune cells.

  • The acronym stands for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic—the core scientific features of the disease. 

What is VEXAS?

The term VEXAS is an acronym which stands for the following:

V = Vacuoles, cavities enclosed in tissue, are often detected in biopsied bone marrow cells

E = E1, Ubiquitin-activating Enzyme encoded in the UBA1 gene, is mutated

X = X chromosome, is where the UBA1 gene is located

A = Autoinflammation, results from the body’s immune cells targeting healthy cells by mistake

S = Somatic, means the mutations are acquired in life and not inherited

What does VEXAS mean?

How is it Detected?

Key symptoms include persistent fevers, extreme fatigue, painful skin rashes, inflammation of cartilage (ears, nose), joint pain, lung involvement, and blood disorders such as anemia and low platelets.

Diagnosis is challenging because symptoms mimic other diseases and overlap medical specialties, including rheumatology, hematology, pulmonology, dermatology, and cardiology.

Confirmation requires genetic testing for the UBA1 mutation and may involve bone marrow analysis for characteristic vacuoles in blood cells.

How is it Treated?

Treatments focus on controlling inflammation and managing symptoms, commonly using corticosteroids and other immunosuppressive drugs.

At this time, the only cure for VEXAS is bone marrow transplantation. Not all sufferers are eligible for this demanding procedure.

Research into new treatments is ongoing. The patient registry we are developing in partnership with the National Organization for Rare Disorders (NORD) will aid the international medical community in research and clinical trials.

What is the Urgency?

VEXAS syndrome can be life-threatening, leading to complications such as bone marrow failure and blood clots if not recognized and managed promptly.

While still considered rare, recent studies suggest it may affect as many as 1 in 4,000 men over age 50, women, etc.

Many, when finally diagnosed, say it brings clarity after years of unexplained symptoms — they realize they’ve likely been living with VEXAS for a long time. Awareness and early diagnosis – particularly through blood testing – can be making awareness and early diagnosis critical.