The deadly VEXAS syndrome is more common than doctors think

A mysterious new disease can be blamed for serious, unknown inflammations in the elderly. Now, researchers are getting a good first look at who the disease strikes, and how often.

VEXAS syndrome, a disease discovered just two years ago, affects almost 1 in 4,000 people over 50 years of age, according to scientists on January 24. JAMA. The disease also occurs in the elderly, but more rarely. Altogether, more than 15,000 people in the United States may suffer from the syndrome, says study coauthor David Beck, a clinical geneticist at NYU Langone Health in New York City. Those numbers indicate that doctors are worried about surveillance, says Beck. “It’s underdiagnosed and underrecognized. Doctors don’t know a lot yet.”

Beck’s team announced that they will discover VEXAS syndrome in 2020, linking changes in the gene called UBA1 Symptoms range from fever, low blood cell count and inflammation. Jugal’s new study is the first to assess how often VEXAS occurs in the general population – and the results are surprising. “It’s more common than we suspected,” says Emma Groarke, a hematologist at the National Institutes of Health in Bethesda, Md., who was not involved in the study.

VEXES tend to show up later in life — after people acquire them in some way UBA1 changes in blood cells. Patients may feel excessive fatigue, numbness, and scaly skin, Beck says. “The disease is progressive, and it is serious.” Harassment can even be deadly. Once a person’s symptoms begin, the median survival time is about 10 years, his team found.

Until the year 2020, no one knew that there was a genetic thread connected to VEXAS syndrome with otherwise explained symptoms. In fact, individuals are diagnosed with other conditions, including polyarteritis nodosa, an inflammatory blood disease, and relapsing polychondritis, a known tissue disorder, before being diagnosed with VEXAS.

To get a ballpark figure for the number of people affected by VEXAS, Beck’s team went through the electronic health records of more than 160,000 people in Pennsylvania, in collaboration with the NIH and Geisinger Health. In people over 50, causing the disease UBA1 It shows changes in about 1 in 4,000 people. Among women in that age bracket, about 1 in 26,000 had the mutation.

Genetic blood tests can help doctors diagnose VEXAS, and treatments like steroids and other immunosuppressive drugs, which can tamp down inflammation, can ease symptoms. Groarke and his NIH colleagues have also begun a small phase II clinical trial testing bone marrow transplantation as a way to exchange sick patients’ blood cells for healthy ones.

Beck says he hopes to raise awareness about the disease, though he acknowledges there is much more work to be done. In his team’s studies, for example, most of the participants were white Pennsylvanians, so the researchers don’t know how the disease affects other populations. Researchers also don’t know what drives the blood cell changes or how they spark an inflammatory frenzy in the body.

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