There are many rare diseases in the world, one of which is VEXAS syndrome, a complex autoimmune condition that wreaks havoc on the body with widespread inflammation. It was discovered and named by a team of researchers from the National Institute of Health (NIH) in 2020, who noted that VEXAS syndrome is more common than many other types of rheumatologic conditions. To understand more about the rare disease, we spoke to Dr Sheetal Sharda, Director, Clinical Genomics Development and Implementation, Neuberg Centre for Genomic Medicine.
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What Is VEXAS Syndrome?
VEXAS is an acronym for:
Vacuoles in blood cells
E1 Enzyme, needed by your body to function and survive
X chromosome, which consists of the mutated UBA1 gene
Autoinflammatory, indicating problems with your immune system's reactions
Somatic, which is acquired and not inherited.
“It is a condition that causes recurrent episodes of fever and abnormal inflammation, leading to a range of symptoms that can significantly impact daily life,” said Dr Sharda.
She added, “Unlike the normal immune response to injury or foreign invaders, such as bacteria or viruses, in VEXAS syndrome, the body’s immune system is activated abnormally, causing fevers and inflammation that harm tissues and organs. This classifies VEXAS syndrome as an autoinflammatory disease.”
According to the NIH study, VEXAS primarily affects males, mainly due to a mutation on the X chromosome, which is only present in men.
A research team screened over 1.6 lakh people for the VEXAS-related gene mutation, finding it in 12 individuals. Interestingly, two were women, suggesting the disease might not be as X-chromosome-linked as previously thought.
What Causes It?
Dr Sharda said, “This condition is linked to a specific genetic mutation in the UBA1 gene, located on the X chromosome, which plays a crucial role in regulating the immune system.”
“This change leads to the accumulation of abnormal proteins and triggers an inflammatory response. Being an X-linked condition means that it is typically seen more in males, though women can have a milder form of the disease,” she explained further.
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Tricky To Diagnose Because…
According to Dr Sharda, VEXAS syndrome can be tricky to diagnose because its symptoms may resemble those of other conditions.
This includes:
- Fever
- Weight loss
- Fatigue
- Respiratory issues
- Painful rashes, papules, or nodular lesions
- Pain and swelling of the ear, nose, and joints
- Abnormalities in the bone marrow may lead to complications such as anaemia
Treatment Options
Managing VEXAS syndrome requires a multidisciplinary approach involving rheumatologists, immunologists, and other specialists, said Dr Sharda.
However, there is no specific cure for VEXAS syndrome at present, but treatment focuses on alleviating symptoms and improving quality of life, he added. Some of the most common treatment options include the following:
- Immunosuppressive medications, which help control the overactive immune response, reduce inflammation
- Corticosteroids, which may be prescribed to manage inflammation
- Supportive therapies, such as respiratory support or pain management
Conclusion
While VEXAS is not a widely prevalent disease, understanding the condition, its symptoms, and available treatments is a crucial step in managing it effectively. Dr Sharda recommended seeking medical attention promptly if you or someone you know experience symptoms. A collaborative effort between patients, healthcare professionals, and researchers is essential in unravelling the complexities of this rare condition, he added, concluding that knowledge is power, and together people can navigate the journey towards better health.