A startling revelation was made on Tuesday – a previously unknown syndrome with a high mortality rate is far more common than previously thought. The findings, published in JAMA, have caused alarm among medical professionals.
In 2020, a mysterious and potentially life-threatening condition known as VEXAS was discovered. Patients with the condition experience unexplained fevers, anemia, and inflammation. David Beck, M.D., Ph.D., and his team of researchers, who identified a UBA1 gene mutation shared amongst VEXAS patients, are leading the charge to better understand and treat the condition.
His team put their knowledge to work and analyzed the blood DNA records of 163,096 consenting patients from the Pennsylvania healthcare system. After scouring the dataset, they uncovered the UBA1 mutation in nine males and two females.
A new study conducted by researchers at NYU Grossman School of Medicine reveals an alarming reality: the rare condition is more widespread than previously thought. 1 in 4,269 men and 1 in 26,238 women over the age of 50 have been identified with the condition. This is a stark contrast to the 2020 findings which identified 25 men and zero women in the U.S. This data reveals a troubling trend, emphasizing the need for greater attention towards this rare disease.
Remarkably, Matthew Koster, M.D., a rheumatologist at Mayo Clinic, has reported groundbreaking findings in the field.
Yes, VEXAS is more common than we previously thought – with patients hiding in plain sight. This means that many people with the condition may be going undiagnosed or misdiagnosed, as their symptoms are often overlooked. It is important for both healthcare professionals and patients to be aware of the signs and symptoms of VEXAS, so that it can be identified and treated appropriately.
Proving the greater prevalence of VEXAS in men is of utmost importance, as this population carries a disproportionately high mortality rate: up to half of all people diagnosed with VEXAS, primarily men, succumb to the illness within five years.
The study, while limited to a primarily white, female population based in Pennsylvania, is only the beginning; the team is now looking to broaden the scope and explore genetic causes in more diverse groups.
The team is hopeful that their findings will raise awareness of the disease, leading to more accurate diagnoses and providing new possibilities for therapies. By bringing attention to this issue, they believe they can make a real impact on improving people’s lives.
For those patients suffering from inflammatory syndromes and not responding to treatments, VEXAS testing is a powerful tool to help them find the right therapy. According to BioSpace, VEXAS can identify the underlying cause of the condition and enable doctors to target the most effective treatments for their patients.
Developing a simple blood test for the UBA1 mutation is an exciting potential breakthrough that could make diagnosing this condition easier and earlier than ever before. This is a project that scientists are actively working on to make an impact in the medical world.
Treating the disease is no easy feat – high-dose steroids, JANUS kinase inhibitors, and in some cases, bone marrow transplants are all potential solutions. Bone marrow transplants can be a particularly effective curative treatment, as the genetic mutation is in the blood, however, this option carries a considerable risk.
Beck’s team is taking the next step in their fight against VEXAS by collaborating with the NIH to uncover what makes the disease more severe in some patients and how to best treat it. By working with the world’s leading medical authority, they are one step closer to bringing hope to those who suffer from VEXAS.
Beck is determined to raise awareness for his research in the biopharma field and push for more treatments, now that the prevalence of the disease has been realized. With its genetic mutation, the disease presents a potential target for gene therapy, giving Beck hope for a brighter future for those affected.