VEXAS syndrome was only discovered in 2020. And it may affect way more people than we thought.
, Beck and his colleagues scanned genetic sequencing readings from more than 160,000 people to determine how common VEXAS syndrome really is, and how its symptoms manifest in patients. The research team found that nine male patients and two female patients in their study had mutations that caused VEXAS.
And as a result, the researchers estimated that the syndrome affects about 13,200 men and 2,300 women over age 50 in the U.S. alone. “It’s thrilling to go from trying to understand a few patients to finding that the same genetic cause and the same disease is found in tens of thousands of individuals,” Beck said. “Not just because we know that there are many patients out there who are suffering, who don't get a diagnosis, or who don't get the treatment that can help them and just taking a step in that direction; it's also very surprising that you can still make these sort of discoveries despite all of the biomedical research going on.” VEXAS is an acronym that stands for several key features of the syndrome. In every case of the syndrome, a patient has a genetic mutation coding for the enzyme E1. The mutation occurs on a gene on the X chromosome, which as you might recall from biology class, is a sex chromosome—men only have one, making them more prone to coming down with VEXAS. And the mutation is somatic, which means it is acquired during life as opposed to being inherited from a parent. That last feature, which gives VEXAS its “S,” is crucial: Because VEXAS is caused by a somatic mutation, the syndrome isn’t passed down and only occurs in older patients, typically over the age of 50, Beck said. This type of research, Beck emphasized, has been made possible by recent advances in genetic sequencing that make it readily available and affordable to patients. The participants in the study all sought care at a Geisinger health care facility in central and northeastern Pennsylvania between 1996 and 2022. As part of a to map genetic variation across the human genome, the participants’ exomes—regions of their genomes that encode proteins—were sequenced.I’ve been impressed, actually, with depictions in popular media, because [it shows] they’ve read the paper.All of the 11 participants found to have mutations in the gene for the E1 enzyme were anemic and the vast majority had abnormally large red blood cells and a low platelet count—all symptoms consistent with VEXAS syndrome. Importantly, though, some of the more severe symptoms associated with VEXAS, like inflammation in the cartilage , were not present in these patients. This suggests that there may be a broader spectrum of severity when it comes to cases of VEXAS syndrome. One other puzzling aspect of the study was the fact that the two women retrospectively identified as having VEXAS syndrome only suffered from the VEXAS-related mutation onof their X chromosomes, not both. “It’s confusing for us,” since originally the researchers thought that VEXAS only affected men, Beck said. “We've been slowly recognizing more females that have the disease, and we don't understand why that is.” One phenomenon at play could be X-inactivation, a process in which one of a female’s two X chromosomes is silenced throughout their cells. The researchers wrote in the study that future analyses will be critical to understanding the prevalence of the syndrome in diverse populations, since 94 percent of the participants in the Geisinger cohort were white.
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