Health and Wellness

A new genetic disease is more common than expected

Jan. 25, 2023 – A recently discovered inflammatory disease known as VEXAS syndrome is more widespread and dangerous than previously understood, a new genetic analysis suggests. Although it is rare, scientists believe that the disease could affect thousands of men in the United States. It may also go undiagnosed.

“Is VEXAS more common than we think?” With patients hiding in plain view, “Is VEXAS really that common?” The answer is yes,” says Mayo Clinic rheumatologist Matthew J. Koster, MD, who’s studied the disease but didn’t take part in the new research project. He said that his institution sees a patient with the illness every other week. 

Researchers first described VEXAS syndrome in 2020 and gave it its name, which stands for several of its traits – vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic. It is thought that the disease is caused by a gene mutation which seems to affect how the body detects dysfunctional protein so they can be eliminated.

David Beck, MD and PhD, the study’s lead author, said that “the disease is very severe.” He is also an assistant professor at NYU Langone Health’s Department of Medicine. 

Patients suffering from the condition have a variety clinical symptoms, which affect different parts and are managed by different medical specialists.

Symptoms can include anemia – a low level of red blood cells in the body – and inflammation that affects the skin, lungs, bone, cartilage, and joints. These symptoms are often mistaken for other rheumatic and hematologic conditions. [blood] Beck says that there are many diseases. This syndrome, however, has a different cause and requires additional monitoring. It can also be far more severe.

Beck, who discovered the disease, said that hundreds of people have been diagnosed as having VEXAS syndrome since its inception. Some cases of the disease may prove fatal. 

The new study was conducted by researchers who looked at genetic data from 163,096 individuals (average age 52.8), 94% white, 61% women and patients at 10 Pennsylvania hospitals in 1996-2022.

The likely variants were found in eleven people, nine males and two females. All had anemia. 

Just over half of the patients – 55% – had a clinical diagnosis that was previously linked to VEXAS syndrome. Beck says this means that half of patients didn’t have an associated clinical diagnosis. “VEXAS syndrome” is an example a multi-system disorder in which patients and symptoms can get lost.

Dr. Ying says that doctors need to be aware of patients who have undiagnosed inflammation and other symptoms that don’t respond or can’t be treated with their first treatment. He says that these patients are likely to be anemic, have low blood platelet counts, high levels of inflammation, and depend on corticosteroids, which can weaken the immune system.    

Koster said that the disease is so prevalent that “clinicians need to consider that some patients who aren’t responding to treatment might actually have VEXAS.” 

Genetic testing can help determine if you have VEXAS.

Beck states that medications that target the immune system can partially control the disease. He also mentions that bone marrow transplants are effective.

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