What is VEXAS Syndrome? The “mystery disease” could affect thousands of people

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 those diagnosed die within five years of being identified, and so far it has affected more men than women.

For the study, researchers analyzed data from 163,096 people who were genetically screened for the disease, which is caused by a mutation in the UBA1 gene; 12 people in the study, all of whom had symptoms of VEXAS, have the mutation. This number may seem low, but it is actually quite surprising to scientists: using this data, they estimated that approximately 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.

Although the data offers an illuminating insight into the potential prevalence of VEXAS, the report authors acknowledged that the pool of study participants is not even close to being representative of the country’s diverse population – most participants were white people living in Pennsylvania. “This study provides an estimate of prevalence…within a single regional health system in the United States,” they wrote. “Further studies are needed in genetically diverse unselected populations to better define prevalence in the general population.”

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

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

Doctors can diagnose VEXAS syndrome through genetic tests that detect mutations in the UBA1 gene, according to the NIH. The disease has been associated with a handful of other rare diseases, including relapsing polychondritis; periarteritis nodosa; sweet syndrome; and myelodysplastic syndrome.

Once someone is diagnosed with VEXAS, they will need a lot of support – ideally, a team of doctors who can help them manage the nuances of the disease, as the disease 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 disorders of the blood, bone marrow or lymphatic system.

Although there is currently no treatment available for VEXAS syndrome, some symptoms caused by the disease can be managed with steroids, which help reduce inflammation, and immunosuppressants, which help prevent the immune system from breaking down. damage healthy cells. Some people with the disease may also benefit from a bone marrow transplant.

Although little is currently known about the disease, given that its genetic link was only discovered in 2020, the NIH says scientists around the world have an interest in understanding it. Currently, a clinical trial is underway to determine if cell transplants can help people with VEXAS, and Dr. Beck’s team plans to continue studying the disease, in hopes of developing a test. simple blood that will facilitate the diagnosis of doctors. he.


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