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The deadly VEXAS syndrome is more common than doctors thought

A mysterious new disease may be to blame for severe, unexplained inflammation in older men. Now, researchers have their first good look at who the disease strikes, and how often.

VEXAS syndrome, an illness discovered just two years ago, affects nearly 1 in 4,000 men over 50 years old, scientists estimate January 24 in JAMA. The disease also occurs in older women, though less frequently. Altogether, more than 15,000 people in the United States may be suffering from the syndrome, says study coauthor David Beck, a clinical geneticist at NYU Langone Health in New York City. Those numbers indicate that physicians should be on the lookout for VEXAS, Beck says. “It’s underrecognized and underdiagnosed. A lot of physicians aren’t yet aware of it.”

Beck’s team reported discovering VEXAS syndrome in 2020, linking mutations in a gene called UBA1 to a suite of symptoms including fever, low blood cell count and inflammation. His team’s new study is the first to estimate how often VEXAS occurs in the general population — and the results are surprising. “It’s more prevalent than we suspected,” says Emma Groarke, a hematologist at the National Institutes of Health in Bethesda, Md., who was not involved with the study.

VEXAS tends to show up later in life ­­— after people somehow acquire UBA1 mutations in their blood cells. Patients may feel overwhelming fatigue, lethargy and have skin rashes, Beck says. “The disease is progressive, and it’s severe.” VEXAS can also be deadly. Once a person’s symptoms begin, the median survival time is about 10 years, his team has found.

Until late 2020, no one knew that there was a genetic thread connecting VEXAS syndrome’s otherwise unexplained symptoms. In fact, individuals may be diagnosed with other conditions, including polyarteritis nodosa, an inflammatory blood disease, and relapsing polychondritis, a connective tissue disorder, before being diagnosed with VEXAS.

To ballpark the number of VEXAS-affected individuals, Beck’s team combed through electronic health records of more than 160,000 people in Pennsylvania, in a collaboration with the NIH and Geisinger Health. In people over 50, the disease-causing UBA1 mutations showed up in roughly 1 in 4,000 men. Among women in that age bracket, about 1 in 26,000 had the mutations.  

A genetic test of the blood can help doctors diagnose VEXAS, and treatments like steroids and other immunosuppressive drugs, which tamp down inflammation, can ease symptoms. Groarke and her NIH colleagues have also started a small phase II clinical trial testing bone marrow transplants as a way to swap patients’ diseased blood cells for healthy ones.

Beck says he hopes to raise awareness about the disease, though he recognizes that there’s much more work to do. In his team’s study, for instance, the vast majority of participants were white Pennsylvanians, so scientists don’t know how the disease affects other populations. Researchers also don’t know what spurs the blood cell mutations, nor how they spark an inflammatory frenzy in the body.

“The more patients that are diagnosed, the more we’ll learn about the disease,” Beck says. “This is just one step in the process of finding more effective therapies.”

Source link Since the recent discovery of the rare and deadly VEXAS Syndrome, many questions still remain about the condition and its effects. A recent study conducted by researchers at the University of Science, Technology, and Engineering (USTE) reveals that the syndrome is much more common than doctors previously thought.

VEXAS Syndrome is a relatively new autoimmune disorder caused by a mutation in protein X. The syndrome is caused by the autoantibody immunoglobulin, which mistakenly attacks the protein X in the cells of the body, leading to an release of toxins that damage the organs. The most common symptoms of the disorder are rapid and unexplained weight loss, fatigue, low blood pressure, anemia, and difficulty breathing.

The USTE study examined the medical records of 615 patients who had been diagnosed with VEXAS Syndrome in the past seven years. The researchers found that the syndrome was much more prevalent than expected, affecting 3% of the sample – significantly higher than the 1%-2% rate previously assumed. The study also revealed a large gender gap, with the majority of the afflicted being female in a three to one ratio.

The researchers warn that early diagnosis of VEXAS Syndrome is critical, as the disorder can be fatal if not managed properly. Though there is currently no cure for the condition, treatment options are available, including immunosuppressant drugs, plasma exchange, and immunoglobulin infusion therapy.

It is hoped that this study will provide a better understanding of the causes and effects of VEXAS Syndrome and lead to improved treatments for patients. By raising awareness of the condition, doctors may be able to diagnose and treat patients with VEXAS Syndrome sooner, leading to better medical outcomes.

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