Do you sometimes feel like something strange is coming from inside your body, like inflammation? Do you sometimes have a fever, joint pain, skin problems, etc.? Although these may seem unrelated, perhaps the cause of all of these could be the same rare condition. One such condition is called VEXAS Syndrome . Let's talk a little about this today, because it is very important to be aware of this.
What is VEXAS Syndrome? Simply put...
Simply put, VEXAS Syndrome is a very rare autoimmune condition . Now you may be wondering what this autoimmune condition is. Imagine, our body has an immune system. It's like an army that protects our country. The job of this system is to protect us by fighting germs and diseases that come from outside. However, sometimes this very protector, the immune system, mistakenly starts attacking the healthy cells and tissues of our own body . It's as if we can't tell who is our own and who is the enemy. That's what we call an autoimmune condition.
That's what happens to someone with VEXAS Syndrome. The immune system attacks various parts of the body, causing inflammation and swelling . It's like there's always a little fire going on inside the body.
VEXAS Syndrome can affect the following parts of the body:
- To your blood
- To the bone marrow
- To blood vessels
- For your skin
- Cartilage (especially in the ears and nose)
- To the joints
- To the lungs
- For the eyes
- The names of the testicles in men
Imagine how much trouble this can cause when so many places are affected at once. The cause of this disease is a genetic mutation . To be precise, a change in a gene called the UBA1 gene . This UBA1 gene produces the E1 ubiquitin-activating enzyme, or E1 enzyme for short. The function of this enzyme is to clean up waste products such as unnecessary proteins that accumulate inside our cells and help repair damage to the cells. It's like someone taking out the trash in our house. But when you have VEXAS Syndrome, the E1 enzyme produced by the UBA1 gene doesn't work properly. What happens then? Trash accumulates inside the cells.
The most important thing is that if this condition is not treated properly, it can sometimes be life-threatening. Therefore, it is essential to seek medical advice if you have symptoms. Doctors will provide the necessary treatment to control your symptoms.
What does the name VEXAS mean?
The name VEXAS is a combination of the first letters of several words that help identify this disease. Let's see what they are:
- V - Vacuoles: These are round, empty spaces that form inside abnormal cells. These vacuoles can be seen in the bone marrow cells of people with VEXAS Syndrome.
- E - E1 enzyme: As we mentioned before, this is the E1 enzyme that does not work properly due to a mutation in the UBA1 gene.
- X - X-linked: You know that our sex is determined by two chromosomes. Women have XX chromosomes and men have XY chromosomes. The mutated UBA1 gene that causes VEXAS Syndrome is located on the X chromosome.
- A - Autoinflammation: This is the medical name for inflammation that occurs when the immune system attacks its own body.
- S - Somatic: The genetic mutation that causes VEXAS Syndrome is a type of mutation called "somatic." This means that it occurs randomly and is not inherited from parents. This means that you don't have to worry about your children getting it just because you had it.
Do you understand how the name VEXAS came about? Each of these letters tells an important piece of information about the disease.
How common is VEXAS Syndrome?
This is actually a very rare condition . Experts say that even in a country like America, this disease affects approximately one in 13,000 people. Although the statistics in Sri Lanka are not exact, it is clear that this is a much less common condition.
What are the symptoms of VEXAS Syndrome?
The main symptom of this disease is inflammation . So, the other symptoms depend on where in the body the inflammation occurs. See if you have any of these symptoms:
- I often get fever.
- Low oxygen levels in the blood (hypoxemia) .
- Various skin rashes and eczema.
- Body swelling.
- Joint pain.
- Cough.
- Difficulty breathing (dyspnea).
- Redness of the eyes.
- Headache.
- Swelling of the testicles in men (orchitis).
If one or more of these symptoms persist, it is wise to seek medical advice rather than dismissing them as a common illness.
Why does VEXAS Syndrome occur? What is the cause?
As we've talked about before, the main cause of this is a genetic mutation in the UBA1 gene . Genetic mutations are changes in our DNA. DNA sequence. When cells divide, that is, when cells make copies of themselves, sometimes part of this DNA sequence can be in the wrong place, incomplete, or damaged. That's when the symptoms of genetic conditions appear.
What happens to someone with VEXAS Syndrome is that the UBA1 gene does not function properly, and the E1 enzyme is not produced as it should. Normally, the E1 enzyme is like a "cleaner" inside our cells. Its job is to clean up waste, such as old and damaged proteins, inside the cells. But when you have VEXAS Syndrome, this "cleaner" team is not working properly. What happens then? Damaged proteins and waste accumulate inside the cells. When our immune system sees this accumulated waste, it thinks there is an infection or a threat there. But since there is actually no infection there, the immune system attacks healthy tissue. That is what causes inflammation. Think of it like the garbage truck not cleaning the house and the garbage accumulating.
Who is at higher risk of developing VEXAS Syndrome?
Studies have found that men are more likely to develop this disease. It is also more common in people over the age of 50. This means that genetic changes that come with age may play a role.
What are the possible complications of VEXAS Syndrome?
If the inflammation caused by VEXAS Syndrome affects your bone marrow , it can lead to a condition called bone marrow failure. This can be life-threatening.
Depending on where the inflammation occurs, a person with VEXAS Syndrome is more likely to develop other health problems, such as:
- Leukemia ( a type of blood cancer)
- Myocarditis (inflammation of the heart muscle)
- Anemia
- Dermatitis ( skin inflammation)
- Chondritis (inflammation of cartilage)
- Vasculitis (inflammation of blood vessels)
- Arthritis ( joint inflammation)
- Blood clot in the deep vein (Deep Vein Thrombosis - DVT)
- Colitis (inflammation of the large intestine)
Look at how serious conditions this can cause. That's why early detection and treatment are important.
How do doctors diagnose VEXAS Syndrome?
A doctor will diagnose VEXAS Syndrome by physically examining you and doing genetic testing . He or she will carefully review your symptoms and ask you about how long you have had these symptoms.
However, the only way to know for sure whether you have VEXAS Syndrome is through genetic testing. In this, your doctor will take a sample of your blood, skin, hair, or other tissue and send it to a lab. Technicians there will test your DNA to see if you have the mutation in the UBA1 gene that causes VEXAS Syndrome.
What are the treatments for VEXAS Syndrome?
The main current treatments for this condition are:
- Corticosteroids reduce inflammation.
- Immunosuppressants slow down your immune system.
- If your bone marrow is showing signs of failure, you may need a bone marrow transplant . A bone marrow transplant can also reduce the severity of some autoimmune conditions.
You may also be referred to a rheumatologist , a doctor who specializes in joint and autoimmune diseases, who can provide the most accurate guidance on treating these conditions.
Can VEXAS Syndrome be prevented?
Unfortunately, there is currently no way to prevent this disease . The mutation in the UBA1 gene occurs randomly, without any known cause. So we can't stop it in advance.
What is the life expectancy of someone with VEXAS Syndrome?
This is a very sensitive issue. The truth is, everyone is different, and the way VEXAS Syndrome affects your body can vary from person to person. However, as we’ve said before, this condition can be life-threatening if left untreated. So talk openly with your doctor about what you can expect and what treatment options are best for you. He or she can help you manage your symptoms and refer you to mental health professionals and other support services if needed.
When should I see a doctor?
If you experience any symptoms of VEXAS Syndrome, such as fever, skin rash, or difficulty breathing, be sure to see a doctor. Because VEXAS Syndrome causes a variety of symptoms that may seem unrelated, it can sometimes be difficult to diagnose at first. However, listen to your body, and if you have symptoms that you don't understand or that aren't related to your other health conditions, talk to a doctor about them.
If you have already been diagnosed with VEXAS Syndrome, and you feel like you are developing new symptoms or your existing symptoms are getting worse, see a doctor immediately.
Emergency! If you have a fever of more than 103°F (39.5°C) for more than two hours despite treatment at home, go to an emergency room. If you are having trouble breathing, go to a hospital immediately or call 911 (or your local emergency number).
What questions should I ask my doctor?
When you go to see the doctor, be prepared to ask questions like these:
- Do I have VEXAS Syndrome, or is it another condition?
- Will I need to have genetic testing?
- What kind of treatment do I need?
- What symptoms or changes should I look out for?
- Is VEXAS Syndrome a threat to my life?
These questions will be a good starting point for you to start a discussion with your doctor.
Finally, finally, remember this (Take-Home Message)
VEXAS Syndrome is a rare autoimmune disease caused by a specific gene mutation. It can cause inflammation throughout your body and can be life-threatening if left untreated. But don't give up hope . Your doctor can help you find the right treatment to control your symptoms.
If you experience any symptoms of VEXAS Syndrome, see a doctor. Trust yourself, listen to your body. Don't ignore symptoms like fever, rash, and difficulty breathing. With early diagnosis and proper treatment, you can live a healthier life.
` VEXAS Syndrome, Autoimmune Diseases, Inflammation, Genetic Mutations, UBA1 Gene, Bone Marrow
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