Understanding VEXAS

Understanding
VEXAS

VEXAS syndrome is an inflammatory autoimmune condition that primarily 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 (NIH) in 2020. VEXAS syndrome can be fatal if not treated. Its symptoms can often mimic other inflammatory autoimmune conditions, which is why it is not always correctly diagnosed.

What is VEXAS?

VEXAS is a rare autoimmune condition that causes inflammation throughout the body. It is caused by a mutation in the UBA1 gene. The mutation is not inherited, meaning you don’t get it from your parents and can’t pass it on to your children. Recent studies suggest it’s more common than first thought. According to a new study, about 13,200 men and 2,300 women in the U.S. have it. It’s more common than other inflammatory conditions, such as myeloid dysplasia syndrome (MDS) and vasculitis.

Autoimmune conditions are your immune system accidentally attacking your body instead of protecting it from threats. If you have VEXAS syndrome, your UBA1 gene malfunctions don’t produce the E1 enzyme like it’s supposed to. E1 enzyme usually acts like a janitor that cleans up damaged or old proteins inside your cells. When you have VEXAS syndrome, the E1 enzyme cleaning crew is 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 and attacks healthy tissue, which causes inflammation.

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 may be sore, and you may have blood clots. 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 a shortage of platelets. VEXAS can cause myelodysplastic syndrome (MDS), a condition that stops your blood cells from forming properly that can lead to leukemia.

The main symptom of VEXAS syndrome is inflammation which contributes to other symptoms, including:

  • Fever
  • Low blood oxygen levels
  • Anemia
  • Skin rash
  • Swelling
  • Joint pain
  • Persistent cough
  • Shortness of breath
  • Red eye
  • Headaches
  • Swollen testicles
  • Night sweats

How is VEXAS
diagnosed?

Genetic testing is the only way to confirm if you have VEXAS syndrome. Your provider will take a sample of your blood, bone marrow, or other tissue and send it back to a lab.  Technicians at the lab will look at your DNA for the UBA1 variant that causes VEXAS syndrome.

What are the complications of VEXAS?

Depending on where the inflammation occurs, having VEXAS syndrome might make you more likely to develop other health conditions, including:

  • Leukemia
  • Myocarditis
  • Anemia
  • Dermatitis
  • Chondritis (swollen cartilage)
  • Vasculitis
  • Arthritis
  • Deep vein thrombosis (DVT)
  • Colitis

If the inflammation from VEXAS syndrome affects your bone marrow, you can experience bone marrow failure — which can be fatal.

How is VEXAS treated?

There is no one treatment right for everyone. And because VEXAS manifests itself in many ways, you may need to see multiple specialists for its treatment. You might need to work with a rheumatologist who specializes in treating autoimmune conditions or a hematologist who can treat blood-related symptoms.

The most common treatments for VEXAS syndrome include:

  • Corticosteroids to reduce inflammation.
  • Immunosuppressants to slow down your immune system’s response.
  • A bone marrow transplant if your bone marrow shows signs of failing. Bone marrow transplants can also help reduce the severity of some autoimmune conditions

Researchers are looking at other possible VEXAS treatments, such as stem cell therapy and medications, including JAK inhibitors and IL-6 inhibitors.

Every person is different, and how VEXAS syndrome affects your body will be unique. VEXAS syndrome can be fatal if it’s not treated. Talk to your healthcare provider about what you can expect and which treatment options work best. Your provider will help you manage your symptoms and can recommend mental health professionals and other support resources.

When should I see my healthcare provider?

Visit a healthcare provider if you experience any symptoms of VEXAS syndrome, such as persistent and unexplained inflammation, low blood cell counts, or anemia. It can be hard to diagnose VEXAS syndrome right away because it causes so many different symptoms that might not seem connected. However, if you are experiencing persistent and unexplained VEXAS like symptoms, ask your healthcare provider to test you for VEXAS.

Depending on where the inflammation occurs, having VEXAS syndrome might make you more likely to develop other health conditions, including:

  • Leukemia
  • Myocarditis
  • Anemia
  • Dermatitis
  • Chondritis (swollen cartilage)
  • Vasculitis
  • Arthritis
  • Deep vein thrombosis (DVT)
  • Colitis

If the inflammation from VEXAS syndrome affects your bone marrow, you can experience bone marrow failure — which can be fatal.

There is no one treatment right for everyone. And because VEXAS manifests itself in many ways, you may need to see multiple specialists for its treatment. You might need to work with a rheumatologist who specializes in treating autoimmune conditions or a hematologist who can treat blood-related symptoms.

The most common treatments for VEXAS syndrome include:

  • Corticosteroids to reduce inflammation.
  • Immunosuppressants to slow down your immune system’s response.
  • A bone marrow transplant if your bone marrow shows signs of failing. Bone marrow transplants can also help reduce the severity of some autoimmune conditions

Researchers are looking at other possible VEXAS treatments, such as stem cell therapy and medications, including JAK inhibitors and IL-6 inhibitors.

Every person is different, and how VEXAS syndrome affects your body will be unique. VEXAS syndrome can be fatal if it’s not treated. Talk to your healthcare provider about what you can expect and which treatment options work best. Your provider will help you manage your symptoms and can recommend mental health professionals and other support resources.

Visit a healthcare provider if you experience any symptoms of VEXAS syndrome, such as persistent and unexplained inflammation, low blood cell counts, or anemia. It can be hard to diagnose VEXAS syndrome right away because it causes so many different symptoms that might not seem connected. However, if you are experiencing persistent and unexplained VEXAS like symptoms, ask your healthcare provider to test you for VEXAS.

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