VEXAS syndrome is an autoimmune condition that mostly affects males over 50. It can cause blood problems, fever, and inflammation leading to organ damage. It was discovered and named by the National Institutes of Health in 2020.
It's rare, but a recent study suggests it's more common than first thought. It has a high death rate, with up to half of people dying within 5 years of diagnosis.
It's genetic but not inherited. That means you don't get it from your parents and you can't pass it to your children. It's not contagious.
If you have it, there's a mutation on yourUBA1 gene.
What Does VEXAS Stand For?
It's an acronym made from features the disorder includes. They are:
- Vacuoles in blood cells
- E1, an enzyme your body needs to function and survive
- X chromosome, which houses the mutated UBA1 gene
- Autoinflammatory, which refers to problems with your immune system's reactions
- Somatic mutations (they're acquired during life and not inherited)
Who Gets VEXAS Syndrome?
Mostly men. It develops later in life because of a genetic mutation.
About 13,200 men and 2,300 women in the U.S. have it, according to a new study. It's more common than other inflammatory conditions such as myeloid dysplasia syndrome and vasculitis.
What Causes VEXAS?
A mutation in your UBA1 gene causes it. That's in certain immune cells and cells that form blood in your bone marrow.
Scientists found the UBA1 gene mutation in the myeloid cells (white blood cells that affect your immune response and inflammation) of those who have VEXAS. They think these cells activate needlessly and cause inflammatory symptoms.
What Are the Symptoms of VEXAS?
You might have fever, fatigue, and shortness of breath. Your joints may be inflamed (causing arthritis), as well as your skin, the cartilage in your ears and nose, and your blood vessels. You also might have enlarged lymph nodes or inflammation in your lungs or eyes.
It's also common to have blood-related problems like anemia or blood clots. Or you might have a shortage of blood cells called platelets. VEXAS can cause myelodysplastic syndrome, a condition that stops your blood cells from forming properly. This can lead to leukemia.
People with VEXAS may also have other conditions such as:
- Relapsing polychondritis
- Polyarteritis nodosa
- Sweet syndrome
How Is VEXAS Diagnosed?
Your doctor will order a blood test to see if there's a mutation in your UBA1 gene. That's the defining factor in making a diagnosis.
They may also do a bone marrow biopsy, imaging tests like a chest CT scan, or lung function tests to rule out other conditions.
How Is VEXAS Treated?
There's no standard treatment. But your doctor may treat your inflammation with steroids and immunosuppressants.
Biologic medications used for autoimmune illnesses have been tried, but corticosteroids are the only effective ones for VEXAS so far. Still, steroids don't work for some people. Some people have diseases along with VEXAS, which can cause complications that lead to death.
VEXAS can affect different organs, so you may need to see specialists. Bone marrow transplants may be an option in some cases.
Researchers are looking at other possible VEXAS treatments such as stem cell therapy and medications, including JAK inhibitors and IL-6 inhibitors. They're trying to understand numerous mutations in the UBA1 gene.
Some patients have inflammation and blood features that indicate they have VEXAS, but they don't have the gene mutation. Doctors are working to spot those who may have VEXAS and to decide when they should get tested.
What's the Outlook for VEXAS?
It's poor, partly because scientists don't understand it fully. But with more research, more can be learned and advances made.