Researchers from NYU Grossman School of Medicine published a new study, titled "Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population" in the journal JAMA Network, which showed that about 13,200 men and 2,300 women over the age of 50 in the United States have VEXAS syndrome.
It was long thought to be a mysterious sickness until its genetic foundation was discovered in 2020. The current data provide the first estimate of how frequent the condition is in the United States.
VEXAS Syndrome Prevalence: Mysterious Illness Affecting Thousands of People in the US Has High Mortality Rate
What Is VEXAS Syndrome?
According to the National Institutes of Arthritis and Musculoskeletal and Skin Diseases, VEXAS syndrome is an inflammatory illness with hematologic (blood) symptoms. Mutations in the UBA1 gene of blood cells produce the condition, which is acquired later in life, although a patient's offspring will not be infected with the sickness.
Moreover, VEXAS is an acronym in which "V" stands for vacuoles seen in cells in the bone marrow of patients with the illness, "E" stands for the E1 activating enzyme in the UBA1 gene, "X" for the X chromosome where the UBA1 gene is located, "A" for autoinflammation, and "S" for somatic symptoms as they are acquired and not inherited.
Patients with VEXAS syndrome may experience a variety of inflammatory symptoms, such as painful skin rashes, pain and swelling of the ear and nose, cough and shortness of breath, swelling, pain in the joints, and inflammation of vessels. Patients could also have a fever and extreme fatigue with hematologic features, like anemia, low platelets, and blood clots.
Diagnosis of VEXAS syndrome includes genetic testing to test for mutations in the UBA1 gene in the X chromosome. Currently, there is no standardized treatment for the condition although some of its symptoms can be treated with steroids and other immunosuppressants. Research suggests that biological males are more likely to be affected.
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VEXAS Syndrome Prevalence in the United States
The VEXAS syndrome is an uncommon but dangerous disease with a high fatality rate. Approximately half of the individuals diagnosed, primarily men, die within five years, as per SciTech Daily.
In those with various conditions such as rheumatoid arthritis, lupus, and blood cancer, the syndrome is frequently coupled with inexplicable fevers and low blood oxygen levels. The symptoms are thought to be caused by an overactive immune system, causing inflammation and classifying VEXAS syndrome as an autoimmune disorder.
Researchers examined the electronic health records of 163,096 predominantly white men and women in Pennsylvania who volunteered to have their blood DNA checked for evidence of hereditary illness in the new study. The UBA1 mutation was discovered in 12 people, all of whom had VEXAS symptoms.
It translates to one in every 4,269 American males over the age of 50 and one in every 26,238 American women over the age of 50 having or is likely to acquire the illness. The number is a higher prevalence number than for several other inflammatory disorders, such as vasculitis and myeloid dysplasia syndrome.
Study lead investigator Dr. David Beck said that the findings offer the first glimpse of how common VEXAS syndrome is in the US, specifically in men, who also happen to be the most to die from the illness.
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Check out more news and information on VEXAS in Science Times.