What is the VEXAS syndrome? You might already be suffering from deadly virus and NOT know about it
LOS ANGELES, CALIFORNIA: The world hasn't fully recovered from the devastating effects of Covid-19. At this point, every little cold or cough seems like this deadly disease. However, one of the lesser-known health issues in aging Americans is something else and it is strikingly similar to the symptoms of the coronavirus and pneumonia. So far, researchers have claimed that this syndrome affects about 13,200 men and 2,300 women over age 50 in the US alone. It's called the VEXAS syndrome.
One might remember this word from the NBC medical drama 'Chicago Med' when Hector Campos barged into the emergency department with shortness of breath, erratic fever, and swollen, itchy ears. What initially seemed to be Covid-19 and later pneumonia with bacterial infection, was later diagnosed to be the VEXAS syndrome, which was later confirmed by genetic sequencing. David Beck, a clinical genetics researcher at New York University Grossman School of Medicine, told The Daily Beast that the depiction of this syndrome was spot on. He said, "In terms of clinical manifestations, they’ve been spot on." Let's now understand what the syndrome exactly is.
What is VEXAS syndrome?
As per Omim, VEXAS is an adult-onset inflammatory disease that mostly affects males and is caused by somatic, not germline, mutations. The disorder is characterized by the adult onset of rheumatologic symptoms at a mean age of 64 years. Ten out of 25 cases studied by researchers died. Beck said, "It’s thrilling to go from trying to understand a few patients to finding that the same genetic cause and the same disease is found in tens of thousands of individuals. Not just because we know that there are many patients out there who are suffering, who don't get a diagnosis, or who don't get the treatment that can help them and just taking a step in that direction; it's also very surprising that you can still make these sort of discoveries despite all of the biomedical research going on."
Moreover, VEXAS is an acronym. In every case of the syndrome, a patient has a genetic mutation coding for the enzyme E1 and it happens on a gene on the X chromosome, which is a sex chromosome and men only have one. Hence, making them prone to this syndrome. This genetic mutation is somatic, which means it is acquired throughout life and not from a parent, hence giving the 'S' in VEXAS. There is no known treatment approved by the Food and Drug Administration. However, a phase II clinical trial is in the process to determine whether blood stem cell transplants can treat or cure the syndrome.