A rare, recently discovered inflammatory disease may affect more people than previously thought, new research suggests.
Scientists first discovered in the A.A.A.A.S Paper published in 2020 The New England Journal of Medicine (NEJM). At that time, only 25 men in the United States were diagnosed with the disease – and no women. They all had the same mutation in a gene called UBA1.
Now, new Paper published in Jama On January 24VEXAS, while still rare, is much more common than scientists initially believed, affecting about 1 in 13,600 people. The researchers found that VEXAS is more common in older individuals and affects both men and women: Among those 50 and older, researchers estimate the prevalence of VEXAS to be about 1 in 4,300 men and 1 in 26,200 women.
VEXAS usually occurs in people with other autoimmune conditions, including lupus, rheumatoid arthritis, and leukemia.
“The findings of this study are amazing,” he says Matthew Koster, MDassistant professor and specialist in rheumatology at the Mayo Clinic in Rochester, Minnesota, who studied VEXAS but was not involved in the new study. “Many academic and referral centers have been wondering: Is VEXAS more than we think, patients are hiding in plain sight? And the answer is yes.”
What is VEXAS syndrome?
The emerging picture of VEXAS began to gain attention when scientists realized that some people with the complex constellation of symptoms that occur in many body diseases share a common mutation in the UBA1 gene.
“VEXAS syndrome is characterized by anemia and inflammation of the skin, lungs, cartilage and joints. These symptoms are frequently mistaken for other rheumatic or blood disorders,” he says. David Beck, MD, Ph.DAssistant Professor at New York University Grossman School of Medicine and the lead author of the latest VEXAS study NEJM Paper. “However, this syndrome has a different cause, is treated differently, requires more monitoring and can be more severe.”
VEXAS is caused by a genetic mutation in the bone marrow, but it is not inherited. It appears suddenly and does not appear to be passed from parent to child, says Dr. Koster. “Currently, we don’t know what could trigger such a mutation,” Koster added.
What does VEXAS mean?
VEXAS is an acronym for several aspects of the disease: vacuoles in blood cells, E1 enzyme, X-linked, autoinflammatory, and somatic.
Although doctors can identify the syndrome through genetic testing, these tests are not yet widely available, both Drs. Beck and Koster note.
Patients with certain symptoms not explained by other diseases, especially men over 50, should ask their doctor if VEXAS could be the cause, advises Koster. These symptoms include:
- Low levels of hemoglobin or platelets in their blood
- Frequent or difficult to control irritations in the joints, skin, eyes, ears or nose
- Unexplained narrowing or blockage of the veins
“These are patients who deserve to be screened,” Koster says. “If VEXAS syndrome is diagnosed, referral to an institution with multispecialty practice in hematology and rheumatology with experience with VEXAS is essential.”
VEXAS is deadly and affects both women and men.
Beck highlights two other key findings from the most recent studies on VEXAS: The condition may be more deadly than previously thought, and it may not be exclusive to men.
To calculate the prevalence of VEXAS in the new study, researchers examined more than 163,000 patients who participated in genetic information and electronic medical records. MyCode Community Health Initiative Health System in Pennsylvania by Geisinger.
VEXAS killed 75 percent of the 12 patients described in the new study, a 40 percent increase in the death rate among the original group of 25 men tested. NEJM Research. “The disease is fatal for a number of reasons, including severe inflammation, blood clots and infections,” Beck said.
In addition, the new study identified two women VEXAS, both of whom died. “I think we may have overestimated how many women are affected by this disease in the first place, and I expect we’ll find a large, but small, number of women affected,” says Beck.
One limitation of the new study is that Geisinger’s findings, in which patients were predominantly of European ancestry, may not reflect the prevalence of VEXAS among people of other backgrounds.
How is VEXAS Syndrome treated?
Treatment methods may vary as scientists learn more about this new disease, and they are still being developed. Options for controlling symptoms may include steroids or biologics such as tocilizumab (Actemra) and ruxolitinib (Jacafi) to control inflammation, Beck says. Some patients, especially those with dangerously low levels of hemoglobin and platelets in their blood, may need a blood transfusion or a bone marrow transplant.
But there is no clear prevention strategy yet. “We don’t know of any way to prevent or reduce the risk of the disease,” says Beck.