A new study has revealed that there might be hundreds of men in the US, who have been suffering from the most recently found genetic ailment, which leads to blood clotting in veins, frequent fever, and irregularities in the lung system. Experts have found that 40 percent of patients with the condition are more likely to die due to the disease. Scientists from the National Institutes of Health (NIH) have found this new genetic disease, which is called VEXAS. Scientists have looked for the genetic structure of 2500 people for variations, which might be linked with their untraced inflammatory disease. The lead author of the study Dr. David B Beck has said that he has found many patients coming to the NIH clinical centers with the symptoms, but they have not been diagnosed until now. The findings of the study have been released in the New England Journal of Medicine.
Experts have tried to study the genomes of undiagnosed people. They have been able to identify three middle-aged men who have similar mutations in a gene called UBA1. They again have found 22 other men who have similar gene mutations with symptoms like blood clots in the vein and recurrent fever. The team of the experts has named this disease VEXAS, which is derived from its characteristics like vacuoles, an unusual cavity like makeup in the cells, E1 enzymes linked to UBA1 gene, X means chromosomes, autoinflammatory when the immune system starts attacking the body itself, and somatic means the condition surfaces later in life rather than at birth. VEXAS attacks only men as it is linked to the X chromosome, and men have one X chromosome. Experts believe that women’s extra X chromosome is not harmful in this case.
Around 25 more men have been diagnosed with the same disorder after this study has been published. Scientists fear that the actual prevalence of this disease might be much greater than this. There are nearly 125 million people in the US who have been dealing with some of the other forms of chronic inflammatory diseases. Experts have said that the study of the genome might help in identifying the previous cases of undiagnosed genetic disorders as well. The findings of the research will assist health professionals to identify and treat patients who are dealing with inflammatory diseases.
