As per a recent study that was published in JAMA, a not so well-known syndrome with high mortality has a much higher prevalence than it was thought. The syndrome called VEXAS was first identified in 2020 in patients who had some unexplained fevers, inflammation, and anaemia. One of the lead investigators of the research, David Beck, M.D., Ph.D., also led a team that initially identified the UBA1 mutation of the gene that was shared amongst the patients with VEXAS.
The team made use of the knowledge to analyse the DNA blood records of around 163,096 patients who consented to be part of the Pennsylvania healthcare system. This mutation was found in nine males as well as two females.
Although these numbers shed some light on the fact that this is a rare disease, the previous study in 2020 identified only 25 men and no women with this condition in the US. The new study, which was led by NYU Grossman School of Medicine researchers, puts forth the fact that the rare condition happens to be more vexing than it was originally thought to be. Apparently, 1 in 4269 men and 1 in 26238 women were over 50.
As per one of the rheumatologists, Mathew Koster, MD, from a leading clinic, the findings were indeed remarkable. According to him, VEXAS is more common than one thinks.
Proving the fact that its prevalence happens to be greater in men is of particular significance as it carries a pretty high mortality number. It is well to be noted that almost half of the population, mostly men, die from VEXAS within 5 years of its detection.
From what one could see, there was a lack of diversity in the study, as 94% happened to be white and 61% were female, all based out of Pennsylvania. The team is looking forward to analysing a more racially diverse group and, at the same time, looking into other genetic causes.
As per the team, these findings are bound to raise awareness, thereby increasing accuracy of diagnosis and opening new doors to novel therapies. According to Beck, many patients who were diagnosed with other inflammatory syndromes did not quite fit the pattern or find the treatments worthwhile. By way of testing VEXAS subgroups, doctors will be able to target the most accurate treatments for patients. The development of a simple blood test for the UBA1 mutation is also a priority so as to make for an easier and earlier diagnosis.
As far as the current treatments for the disease go, they include high-dosage steroids, JANUS kinase inhibitors, and in some instances, bone marrow transplants to put a brake on the symptoms. Since the genetic mutation is in the blood, a bone marrow transplant is a curative treatment but possesses a considerable risk as well.
The next steps when it comes to Beck’s team include a partnership with the NIH to look further into the drivers that make VEXAS more harmful in certain patients.
Beck is anticipating that the research efforts will get attention from the field of biopharma for more treatments now that it is known that the disease is more prevalent than previously thought. Since the disease is driven by gene mutations, gene therapy can be considered for it.