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A newly discovered genetic disease is more common than expected

January 25, 2023 – A recently discovered inflammatory condition known as VEXAS syndrome is more widespread and dangerous than previously thought, according to new genetic analysis. Although rare, researchers believe the disease can affect tens of thousands of men in the United States and can often go undiagnosed.

“Is VEXAS really more common than we think with patients hiding in plain sight? The answer is yes,” says Mayo Clinic rheumatologist Matthew J. Koster, MD, who has studied the illness but did not participate in the new research project. His institution, he says, sees a patient with the disease every week or two.

Researchers first described VEXAS syndrome in 2020 and gave it its name, which represents several of its traits – vacuoles, ubiquitin E1 activating enzyme, X-linked, autoinflammatory, somatic. The disease is linked to a genetic mutation that appears to disrupt the way the body identifies dysfunctional proteins so they can be eliminated.

“The disease is quite severe,” says lead study author David Beck, MD, PhD, assistant professor in the Department of Medicine at NYU Langone Health.

Patients with the disease “show a variety of clinical symptoms affecting different parts of the body and are cared for by different medical specialties.”

Symptoms can include anemia – a low level of red blood cells in the body – and inflammation that affects the skin, lungs, bones, cartilage and joints. “These symptoms are often confused with other rheumatic or hematological symptoms [blood] says Beck. “However, this syndrome has a different cause, is treated differently, requires additional monitoring, and can be much more serious.

According to Beck, who helped discover the disease, hundreds of people have been diagnosed with VEXAS syndrome in the short time since its definition. The disease is thought to be fatal in some cases.

For the new study, researchers searched for relevant variants in the genetic data of 163,096 people (mean age 52.8 years; 94% Caucasian; 61% female) who were patients at 10 Pennsylvania hospitals from 1996 to 2022.

Eleven people (nine men, two women) had the probable variants and all had anemia.

Just over half of the patients – 55% – had a clinical diagnosis that was previously linked to VEXAS syndrome. “This means that just under half of the patients had no clear associated clinical diagnosis,” says Beck. “VEXAS syndrome represents an example of a multisystem disease where patients and their symptoms can get lost in the shuffle.”

Going forward, he says, doctors should be on the lookout for patients with unexplained inflammation and various symptoms that cannot be diagnosed or are unresponsive to their first treatments. “These patients will also frequently be anemic, have low platelet counts and high markers of inflammation in the blood, and be dependent on corticosteroids,” which suppress the immune system, he says.

Koster says the disease is so common that “clinicians should consider that some of the patients with diseases that do not respond to treatment may in fact have VEXAS.”

Diagnosis of VEXAS can be made through genetic testing.

As for treatment, Beck says the disease can be partly controlled with drugs that aim to tame the immune system. Also, he says, bone marrow transplants have shown signs of effectiveness.

webmd Gt

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