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Tens of Thousands of Americans May Have This Deadly Disease—and Not Even Know It - Yahoo! Voices
Jan 24, 2023 1 min, 0 secs
Campos’ condition rapidly deteriorates, and the team of doctors is mystified until fellow ER surgeon Dean Archer suggests it might be VEXAS, a rare autoinflammatory syndrome.

The episode is fictional, but depictions like this one are surprisingly accurate to real-life cases of VEXAS, said David Beck, a clinical genetics researcher at New York University Grossman School of Medicine.

“In terms of clinical manifestations,” he told The Daily Beast, “they’ve been spot on.” Beck ought to know: He and his colleagues first named the syndrome in a study published in The New England Journal of Medicine in 2020.

In a paper published in JAMA on Jan. 24, 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.

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.

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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