What is VEXAS Syndrome? The ‘mysterious disease’ can affect thousands

Thousands of people over the age of 50 may have a recently discovered condition called VEXAS syndrome, which is characterized by symptoms such as extreme fatigue, fever attacks and abnormal inflammation, according to a new study published in JAMA, led by researchers at NYU Grossman School of Medicine. The rare autoinflammatory disease has a high mortality rate; up to half of people diagnosed with it die within five years of identification, and so far it has affected more men than women.

For the study, researchers analyzed data from 163,096 people who had been genetically screened for the disease, which is caused by a mutation in the UBA1 gene; 12 people in the study, all of whom experienced symptoms of VEXAS, have the mutation. That number may sound low, but it’s actually pretty surprising to scientists: Based on this data, they estimate that about 13,200 men and 2,300 women over the age of 50 could have VEXAS syndrome, which was considered a “mysterious disease.” until its “genetic basis” was discovered in 2020, according to a press release about the new research.

While the data provides an illuminating picture of just how widespread VEXAS might be, the report’s authors acknowledged that the study’s participant pool isn’t even close to the country’s representative population — most of the participants were white people living in Pennsylvania. lived. “This study provides an estimate of prevalence … within a single regional health system in the US,” they wrote. “Additional studies are needed in unselected genetically diverse populations to better define the prevalence of the general population.”

Although the disease seems rare, study author David B. Beck, MD, PhD, director of NYU Langone’s Inflammatory Disease Genetics Program, said doctors should keep VEXAS in mind when assessing their patients’ symptoms, especially for those who have persistent symptoms. to have. who have not yet received an accurate diagnosis. “Physicians should add this condition to their list of possible diagnoses when faced with patients with persistent and unexplained inflammation and low blood cell counts, or anemia,” said Dr. Beck in the press release.

In addition to extreme fatigue, abnormal inflammation, and bouts of fever, symptoms of VEXAS syndrome can include painful skin rashes; pain and swelling in the ear and nose; cough; shortness of breath; blood clots; and pain and swelling in the joints, according to the National Institutes of Health (NIH).

Doctors can diagnose VEXAS syndrome through genetic tests that screen for UBA1 gene mutations, according to the NIH. The disease has been associated with a handful of other rare conditions, including recurrent polychondritis; polyarteritis nodosa; sweet syndrome; and myelodysplastic syndrome.

Once a person has been diagnosed with VEXAS, they need a lot of support – ideally a team of doctors who can help them manage the nuances of the disease, as the condition can affect multiple organs. This includes a rheumatologist — who specializes in diseases of the muscles, bones, joints, ligaments, and tendons — and a hematologist, who specializes in treating people with blood, bone marrow, or lymphatic system disorders.

While there is currently no treatment available for VEXAS syndrome, some of the symptoms caused by the disease can be treated with steroids, which help reduce inflammation, and immunosuppressants, which help keep the immune system from damaging healthy cells. Some people with the disease may also benefit from a bone marrow transplant.

While little is currently known about the disease, as the genetic link was not discovered until 2020, the NIH says scientists around the world have an interest in understanding it. A clinical trial is currently underway to determine whether cell transplants can help people with VEXAS, and Dr. Beck plans to study the condition further, hoping to develop a simple blood test that will make it easier for doctors to diagnose. the.


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