Published on
Updated
Reading 2 mins.
According to a new American study, Vexas syndrome would affect thousands of people in the United States. Update on this little-known pathology.
According to a study by the Journal of the American Medical Association (JAMA), Vexas syndrome, an autoimmune disease involving blood cells, affects thousands of individuals and suffers from a lack of diagnosis.
Confused with other diseases
VEXAS syndrome is an inflammatory pathology caused by the somatic mutation of the UBA1 gene in hematopoietic cells (cells made by the bone marrow, which are at the origin of the various blood cells). In adulthood, it causes inflammatory, rheumatological and hematological symptoms.
The problem ? According to an American study, its prevalence rate is much higher than previously thought. It would thus be more common than other inflammatory conditions, such as vasculitis and myeloid dysplasia syndrome.
“Vexas syndrome can cause symptoms that are confused with other rheumatic or hematological diseases. However, this disease has a different cause. It must therefore be treated differently and requires additional monitoring.“, say the researchers.
To better understand the occurrence of this disease, the scientists behind the study analyzed the health records of 163,096 men and women residing in Pennsylvania. All agreed to be tested, via an analysis of their DNA, to detect the first signs of the disease.
Result ? Among the participants, a minority (12 participants in total) had a UBA1 mutation, which causes Vexas syndrome. They also showed all the symptoms of the disease.
However, people affected by this pathology have a particularly high mortality rate, the researchers report.
Vexas syndrome: the importance of diagnosis
If the sample tested during this study remains microscopic, the researchers indicate that these results, reported nationally, could be significant: 13,200 men and 2,300 women over the age of 50 would thus be affected in the United States by the syndrome. vexas.
“We have found that many more people have this disease than expected, most of whom go undiagnosed (…). This work aims to highlight the frequency of the disease, the wide range of clinical symptoms and the importance of testing to help us find more effective treatments for Vexas syndrome.“, conclude the researchers.