Health
What is VEXAS?
VEXAS syndrome is an autoimmune disease that primarily affects men over the age of 50. inflammation lead to organ failure. It was discovered and named by the National Institutes of Health in 2020.
Although rare, recent research suggests it is more common than first thought. It has a high mortality rate, with up to half of people dying within five years of diagnosis.
It’s hereditary, but it’s not hereditary. In other words, it is not given to you by your parents and cannot be passed on to your children. Not contagious.
If you have it, you have a mutation in the UBA1 gene.
What does VEXAS stand for?
This is an acronym for the features included in the disability. they are:
- Vacuole of blood cells
- E1the enzymes your body needs to function and survive
- X chromosomewhich harbors the mutated UBA1 gene
- autoinflammation, This refers to problems with the immune system’s response
- somatic cells Mutations (they are acquired during life and are not inherited)
Who Gets VEXAS Syndrome?
mostly men. It develops later in life due to genetic mutations.
About 13,200 men and 2,300 women in the United States have it, according to a new study. It is more common than other inflammatory diseases such as myelodysplastic syndrome and vasculitis.
What Causes VEXAS?
It is caused by a mutation in the UBA1 gene. It is found in certain immune cells and blood-forming cells in the bone marrow.
Scientists have found mutations in the UBA1 gene in bone marrow cells (white blood cells that influence immune response and inflammation) in VEXAS patients. They believe that these cells are unnecessarily activated and cause inflammatory symptoms.
What are the symptoms of VEXAS?
It may be accompanied by fever, malaise, and shortness of breath. The skin, cartilage in the ears and nose, blood vessels, as well as the joints may be inflamed (causing arthritis). You may also have enlarged lymph nodes or inflammation in your lungs or eyes.
Blood-related problems such as anemia and blood clots are also common. Or you may have a shortage of blood cells called platelets. VEXAS can cause myelodysplastic syndrome, a condition in which blood cells stop 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 blood tests to see if you have a mutation in the UBA1 gene. That is the decisive factor in making a diagnosis.
they again, bone marrow biopsyimaging tests such as a chest CT scan, or pulmonary function tests to rule out other conditions.
How will VEXAS be treated?
There is no standard treatment. However, doctors may treat inflammation with steroids and immunosuppressants.
Biologic agents used in autoimmune diseases have been tried, but so far corticosteroids are the only ones effective in VEXAS. However, some people do not respond to steroids. Some people are sick with her VEXAS that can cause deadly complications.
VEXAS can affect various organs, so you may need to consult a specialist. Bone marrow transplantation It may be an option in some cases.
Researchers are exploring other possible VEXAS treatments, including stem cell therapy and drug therapies such as JAK inhibitors and IL-6 inhibitors. They are trying to understand the numerous mutations in the UBA1 gene.
Some patients have inflammatory and hematological features indicative of having VEXAS but no genetic alterations. Doctors are working to identify people who may have VEXAS and decide when to get tested.
What is the outlook for VEXAS?
It’s poor, in part because scientists don’t fully understand it.
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Sources 2/ https://www.webmd.com/men/what-is-vexas The mention sources can contact us to remove/changing this article |
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