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VEXAS syndrome: Newly identified inflammatory disease may affect thousands of Americans

According to studies, VEXAS syndrome, an autoimmune disorder affecting blood cells, affects more males than women and is more prevalent than previously believed.

Hector Campos presented to the emergency room with shortness of breath, fluctuating fever, and swollen, itching ears. Campos had tested negative for COVID-19, according to his wife. 

What Is VEXAs Syndrome?

Campos’ health progressively worsens, and the physicians are baffled until colleague ER surgeon Dean Archer proposes it could be VEXAS, a rare autoinflammatory illness. Genetic sequencing eventually reveals a mutation that confirms the diagnosis.

The episode is a work of fiction, but descriptions like this one are shockingly true to real-life VEXAS instances, according to David Beck, a clinical genetics researcher at New York University’s Grossman School of Medicine.

“In terms of clinical signs,” he told The Daily Beast, “they’ve been right on.” Beck should know: the illness was identified by him and his colleagues in research published in The New England Journal of Medicine in 2020. “I’ve actually been impressed by depictions in popular media because [it shows] they’ve read the paper.”

Nonetheless, these depictions of VEXAS syndrome tend to emphasize severe instances, in part because the NEJM report did as well. Ten of the 25 patients studied by the researchers died as a result of VEXAS.

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Most Cases Were Missing Or Misdiagnosed

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According to studies, VEXAS syndrome, an autoimmune disorder affecting blood cells, affects more males than women and is more prevalent than previously believed.

Recent research, however, has broadened the case definition of VEXAS to include a milder side. Beck and his colleagues reviewed DNA sequencing findings from more than 160,000 people in an article published in JAMA on January 24 to discover how frequent VEXAS syndrome is and how its symptoms present in patients.

The researchers discovered that nine male patients and two female patients in their study had VEXAS-causing mutations. The acronym VEXAS stands for numerous major aspects of the syndrome. Every patient with the condition has a genetic mutation that codes for the enzyme E1.

The mutation occurs on a gene on the X chromosome, which, as you may remember from biology class, is a sex chromosome—men only have one, making them more susceptible to VEXAS. And the mutation is somatic, meaning it is acquired throughout life rather than inherited from a parent.

That last trait, which gives VEXAS its “S,” is critical: Because VEXAS is produced by a somatic mutation, it is not passed on and only occurs in elderly patients, often over the age of 50, according to Beck.

According to a new study, one in every 13,500 persons in the United States may have VEXAS syndrome, implying that the unexplained and occasionally fatal inflammatory condition is more frequent than previously assumed.

In comparison, the genetic condition spinal muscular atrophy affects approximately one in every 10,000 people, while Huntington’s disease affects approximately one in every 10,000 to 20,000 people.

VEXAS cases have been documented in medical studies on occasion since its discovery, but the study provides new estimates of its occurrence.

According to the study, which was published in the journal JAMA on Tuesday, around 1 in 13,591 people in the United States had mutations in the UBA1 gene, which produces VEXAS syndrome later in life.

Because VEXAS syndrome is not hereditary, people who have it do not pass it on to their offspring. However, because the UBA1 gene is located on the X chromosome, the syndrome is an X-linked condition. It primarily affects men because they have only one X chromosome. Women have two X chromosomes, therefore if they have a gene mutation on one but not the other, they are normally unaffected.

Beck and colleagues from the National Institutes of Health, New York University, Geisinger Research, and other institutions analyzed data on 163,096 patients in a health system in central and northeastern Pennsylvania from January 1996 to January 2022, including electronic health records and blood samples, for the new study.

Eleven individuals had a disease-causing UBA1 variation, and the 12th had a “very suspect” variant.

Only three of the original twelve are still alive. With VEXAS, a five-year survival rate of 63% has previously been reported.

There is no conventional treatment or cure for VEXAS, which is an acronym for five clinical criteria of the condition, but Beck says symptoms can be treated with drugs such as the steroid prednisone or other immunosuppressants.

Although the current study contributes to estimates of the prevalence and symptoms of VEXAS syndrome, the data is not representative of the entire United States, and Beck believes that more research on a bigger, more diverse sample of people is required.

At the NIH, Beck and his colleagues are researching targeted medicines for VEXAS syndrome as well as undertaking stem cell bone marrow transplant trials.

“There are many distinct dimensions of the disease,” stated Dr. Bhavisha Patel, a hematologist and researcher at the National Heart, Lung, and Blood Institute’s Hematopoiesis and Bone Marrow Failure Laboratory, in a recent NIH news release.

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