Doctors and researchers alike have been baffled by the medical mystery of VEXAS syndrome. But in 2020, when scientists discovered the illnesses’ genetic origin, everything changed. A group from the NYU Grossman School of Medicine is currently disclosing more information regarding the condition.
The study, published in the Journal of the American Medical Association (JAMA), estimates that 2,300 women and 13,200 men over 50 in the US have VEXAS syndrome, an uncommon condition with an alarmingly high fatality rate.
Up to half of VEXAS patients pass away within five years of their diagnosis. People with other illnesses, such as rheumatoid arthritis, lupus, and blood cancer frequently experience low blood oxygen levels and fevers that seem inexplicable. Inflammation can be brought on by an overactive immune system, which is related to some VEXAS symptoms. In light of this, medical professionals classify the illness as an autoimmune disease.
Overall, the NYU Grossman study team hopes that their findings will raise awareness of the illness among medical professionals and the general public. Importantly, they point out that bone marrow transplantation, JANUS kinase inhibitors, and high-dose steroids have all shown promise in managing certain VEXAS symptoms.
“Now that we know VEXAS syndrome is more common than many other types of rheumatologic conditions, physicians need to add this condition to their list of potential diagnoses when confronted by patients with persistent and unexplained inflammation and low blood cell counts, or anaemia,” said geneticist and study lead investigator David Beck, MD, PhD. Beck, an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology at NYU Langone Health, in a media release.
Earlier studies led by Dr Beck linked the UBA1 gene mutation to the VEXAS syndrome, which is caused by a change in the DNA’s letter coding. Usually, that enzyme aids in the degradation of proteins.
Many of its biological traits are represented by the word “VEXAS,” including vacuoles in blood cells, the E1 enzyme, X-linked, autoinflammatory, and somatic.
Authors of the most recent study examined the electronic health records of 163,096 Pennsylvania residents, the majority of whom were Caucasian. They all consented to have their DNA checked for evidence of hereditary disorders. Twelve individuals had the UBA1 mutation, and they were all VEXAS patients.
The odds of developing VEXAS
According to statistics, one in 26,238 older women and one in 4,269 older American males (over 50) either already have the syndrome or are likely to develop it. The authors of the study emphasise that these figures are greater than those for several other inflammatory diseases, including vasculitis and myeloid dysplasia syndrome.
“Our study offers the first glimpse of just how common VEXAS syndrome is in the United States, particularly among men, who also happen to be the most to die from it,” says Dr Beck, who is leading several clinical research efforts into VEXAS syndrome at NYU Langone’s Center for Human Genetics and Genomics.
To arrive at these estimations, the research team examined the electronic medical records of adult patients who voluntarily took part in the Geisinger MyCode Community Health Initiative.
In the future, Dr Beck and his team intend to examine patient records from a wider range of racial backgrounds, particularly from those with higher prevalences of rheumatologic and blood disorders.