Revealing Study Uncovers Unknown Illness Affecting Thousands

The discovery of the genetic basis of VEXAS syndrome in 2020 was a major breakthrough in medical research. But how many people in the United States are affected by it? A new study from NYU Grossman School of Medicine attempts to answer this question: Approximately 15,500 individuals over the age of 50 – 13,200 men and 2,300 women – are estimated to have VEXAS syndrome. This is the first national estimate of the prevalence of this mysterious illness.

The rare but deadly syndrome affects mostly men, with up to half of those diagnosed dying within five years. Unexplained fevers and low blood oxygen levels are the hallmark of the syndrome, which is linked to an overactive immune system and often appears in conjunction with diseases such as rheumatoid arthritis, lupus, and blood cancer. This autoimmune condition is one of the deadliest, with a mortality rate that cannot be overlooked.

Researchers hope that their findings will be a wake-up call to physicians, as high-dose steroids, JANUS kinase inhibitors, and bone marrow transplantation can successfully manage certain symptoms of the disorder. With greater awareness, more people can be given the opportunity to live a life free from its debilitating effects.

When confronted with patients displaying persistent inflammation and low blood cell counts or anemia, physicians must now add VEXAS syndrome to their list of potential diagnoses. This is due to a groundbreaking discovery by David Beck, MD, PhD, geneticist and assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology at NYU Langone Health. Beck and his federal research team identified the shared UBA1 mutation among VEXAS patients, showing that this condition is far more common than previously thought.

A groundbreaking new study published in the Journal of the American Medical Association has revealed a remarkable discovery: twelve individuals among a group of 163,096 mostly white men and women in Pennsylvania were found to have a rare genetic mutation known as UBA1, with all exhibiting symptoms of VEXAS. After having their blood DNA screened for indications of genetic disease, the researchers in the study determined that these individuals had the mutation. This is an incredible breakthrough that could have far-reaching implications for our understanding of genetic disorders.

Researchers have uncovered an alarming statistic that one in every 4,269 American men over the age of 50 and one in every 26,238 women over the age of 50 are likely to develop the mysterious and debilitating syndrome. This prevalence figure is higher than many other inflammatory conditions such as vasculitis and myeloid dysplasia syndrome. This troubling discovery has raised new questions and concerns about the syndrome and its implications for the future.

A new study conducted by researchers at NYU Langone’s Center for Human Genetics and Genomics has revealed that VEXAS syndrome is shockingly common in the United States, particularly among men, who are also the most likely to die from it. Led by Dr. Beck, the study is a pioneering effort to understand the prevalence and impact of this often-fatal condition.

Beck’s groundbreaking research uncovered the source of a mysterious syndrome: a mutation in the UBA1 (ubiquitin-like modifier activating enzyme 1) gene. This gene usually helps with the breakdown of proteins, but the mutation causes unexpected and sometimes devastating effects.

VEXAS is an acronym that encapsulates many of the biological features of certain blood cells, such as the presence of vacuoles, the expression of the E1 enzyme, its X-linked inheritance pattern, its propensity for autoinflammatory reactions, and its somatic features.

Researchers at Geisinger’s MyCode Community Health Initiative conducted a study that delved deep into the electronic medical records of adult volunteers. Data was collected from over 25 years of records from patients in the 10 hospitals located in Central and Northeastern Pennsylvania. Nearly all of the participants that agreed to have their blood DNA tested were white, with half of them being older than 60. This study provides a unique and valuable insight into the health of these individuals.

The team is furthering their research by analyzing patient records in more racially diverse groups, particularly those with higher rates of rheumatologic and blood disease, in order to gain a more accurate understanding of who is most vulnerable to VEXAS syndrome. They are also working to identify other potential genetic causes, experiment with new treatments, and create a quick and simple blood test for UBA1 that will make diagnosing the syndrome easier. Through these efforts, they hope to make progress towards a better understanding of VEXAS syndrome.

At NYU Langone, researchers are making groundbreaking advances in understanding the underlying causes of inflammatory diseases, and this study is no exception. Led by Dr. Jessica Beck, this team of innovators includes Samuel Magaziner, MPhil, and Ann Cantor, MS, from NYU Langone, as well as Dale Bodian, PhD, and Vandan Shah, MD, from Geisinger Research in North Bethesda, MD; Uyenlinh Mirshahi, PhD, Natasha Strande PhD, Jeremy Haley, MS, Adam Cook, MS, and Wesley Hill from Geisinger Health in Danville, PA; Jung Kim, PhD, and Douglas Stewart from the National Cancer Institute in Rockville, MD; Alan Schwartz, MD, PhD, from the University of Washington in St. Louis, MO; Peter Grayson, MD, and Marcela Ferrada, MD, from the National Institute of Arthritis and Musculoskeletal and Skin Diseases in Bethesda; and Daniel Kastner, MD, from the National Human Genome Research Institute in Bethesda. Together, this diverse group of researchers has the potential to make a remarkable impact on our understanding of inflammatory diseases.

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