Thousands of people over the age of 50 may have a recently-discovered condition called VEXAS syndrome that’s characterized by symptoms like extreme fatigue, episodes of fever, and abnormal inflammation, according to a new study published in JAMA, led by researchers at the 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 its identification, and, so far, it affects 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 to 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: Through this data, they estimated that about 13,200 men and 2,300 women over the age of 50 could have VEXAS syndrome, which was considered a “mystery illness” until its “genetic basis” was discovered in 2020, per a press release on the new research.
While the data offers an illuminating look at how prevalent VEXAS might be, the authors of the report acknowledged that the study’s participant pool is not even close to representative of the country’s diverse population—most of the participants were white people living in Pennsylvania. “This study provides an estimate of the prevalence…within a single regional health system in the US,” they wrote. “Additional studies are needed in unselected genetically diverse populations to better define general population prevalence.”
Though the disease appears to be rare, study author David B. Beck, MD, PhD, director of NYU Langone’s Inflammatory Disease Genetics Program, said that doctors should keep VEXAS in mind when assessing their patients’ symptoms, especially for those who have ongoing symptoms that have yet to receive an accurate diagnosis. “Physicians need to add this condition to their list of potential diagnoses when confronted by patients with persistent and unexplained inflammation and low blood cell levels, or anemia,” Dr. Beck said in the press release.
In addition to extreme fatigue, abnormal inflammation, and episodes of fever, VEXAS syndrome symptoms 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 testing that screens for UBA1 gene mutations, per the NIH. The disease has been associated with a handful of other rare conditions, including relapsing polychondritis; polyarteritis nodosa; sweet syndrome; and myelodysplastic syndrome.
Once a person is diagnosed with VEXAS, they’ll need a lot of support—ideally, a team of doctors that can help them manage the nuances of the disease, since 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’s 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 stop the immune system from damaging healthy cells. Some people with the disease may also benefit from a bone marrow transplant.
Though 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. Right now, a clinical trial is being conducted to determine whether cell transplants may help people with VEXAS, and Dr. Beck’s team plans to continue studying the condition, with the hope of developing a simple blood test that will make it easier for doctors to diagnose it.
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