VEXAS Syndrome

VEXAS syndrome is an autoimmune condition that causes inflammation throughout your body.

If you have it, your immune system attacks healthy tissue. This leads to inflammation and swelling. VEXAS syndrome can affect your:

• Blood
• Bone marrow
• Blood vessels
• Skin
• Cartilage, especially in your ears and nose
• Joints
• Lungs
• Eyes
• Testicles

VEXAS syndrome can be fatal if it’s not treated. The inflammation it causes can lead to serious complications. A healthcare provider will suggest treatments to manage the swelling. They’ll help you identify warning signs of serious issues and tell you how to stay safe and healthy.

Symptoms of VEXAS syndrome

Inflammation and swelling throughout your body are the main VEXAS syndrome symptoms. How this affects you depends on where your immune system damages your tissue. You might have:

• Fever
• Severe fatigue
• Low blood oxygen levels
• Skin rashes
• Swelling
• Joint pain
• Cough
• Shortness of breath
• Red eye
• Eye pain
• Headaches
• Swollen testicles

VEXAS syndrome causes

A genetic change to the UBA1 gene causes VEXAS syndrome. Normally, this gene makes the E1 enzyme. This enzyme usually acts like a janitor that cleans up damaged or old proteins inside your cells.

If you have VEXAS syndrome, your UBA1 gene malfunctions and doesn’t produce the E1 enzyme as it should. If the E1 enzyme is like a cleaning crew, the genetic change makes the crew extremely understaffed. 

Eventually, damaged proteins and waste build up inside your cells. This backup triggers your immune system, which sees the excess waste as a threat. But — because there isn’t actually an infection in that area — your immune system attacks and damages healthy tissue. This causes the inflammation that leads to symptoms and complications.

Risk factors

Males are much more likely to have VEXAS syndrome. It’s also more common in people over 50.

Complications of this condition

Inflammation from VEXAS syndrome can damage your body over time. This damage can cause serious, sometimes dangerous complications. Inflammation in your bone marrow can lead to bone marrow failure. This can be fatal.

Having VEXAS syndrome can increase your risk of other health conditions, including:

• Leukemia
• Myocarditis
• Anemia
• Dermatitis
• Swollen cartilage (chondritis)
• Vasculitis
• Arthritis
• Deep vein thrombosis
• Colitis

How doctors diagnose this condition

A healthcare provider will diagnose VEXAS syndrome with a physical exam and genetic testing. Tell your provider which symptoms you’ve experienced and when you first noticed them.

The only way to confirm if you have VEXAS syndrome is with genetic testing. Your provider will take a sample of your blood, skin, hair or other tissue and send it to a lab. Technicians at the lab will look at your DNA for the UBA1 mutation that causes VEXAS syndrome.

What does VEXAS syndrome stand for?

The letters in VEXAS syndrome’s name are an acronym for how healthcare providers can identify and diagnose it:

• Vacuoles: These are rounded, empty spaces that form in abnormal cells. People with VEXAS syndrome usually have vacuoles in their bone marrow cells.
• E1 enzyme: This is the ineffective E1 enzyme your cells make when you have a changed UBA1 gene.
• X-linked: You have two types of chromosomes: X and Y. The changed UBA1 gene that causes VEXAS syndrome is always on the X chromosome.
• Autoinflammation: This is the medical term for inflammation that your immune system causes when it attacks your body.
• Somatic: The change that causes VEXAS syndrome is somatic. That means it happens randomly and isn’t passed from parents to their biological children. It’s not hereditary.

VEXAS syndrome treatments

The most common treatments for VEXAS syndrome include:

• Corticosteroids: Steroids reduce inflammation and relieve pain.
• Immunosuppressants: These slow down your immune system’s response to reduce how much your immune system damages healthy tissue in your body.
• Bone marrow transplant: You’ll only need this if your bone marrow shows signs of failing. Bone marrow transplants can also help reduce the severity of some autoimmune conditions.

There’s no cure for VEXAS syndrome. You’ll need to manage the symptoms for the rest of your life. You might need to work with a rheumatologist. This is a healthcare provider who specializes in treating autoimmune conditions.

When should I see my healthcare provider?

Talk to a provider if you’re experiencing symptoms you can’t explain. It can be hard to diagnose VEXAS syndrome right away because it causes so many different symptoms that might not seem connected. But trust your intuition. You know when something isn’t normal for you and your body.

Visit your provider if you’ve been diagnosed with VEXAS syndrome and feel like you’re experiencing new or more severe symptoms.

Go to the emergency room if you have a fever above 103 degrees Fahrenheit (39.5 degrees Celsius) for longer than two hours after home treatment. Go to the ER or call 911 (or your local emergency services number) if you can’t breathe.

What is the life expectancy of someone with VEXAS syndrome?

Every person is different. How VEXAS syndrome affects your body will be unique. You’re more likely to experience complications if it affects your bone marrow.

Talk to your healthcare provider about what you can expect and which treatments will work best for you. Your provider will help you manage the symptoms. They can also recommend mental health professionals and other support resources.