A mysterious new disease may be to blame for severe, unexplained inflammation in older men. Now, researchers have their first good look at who the disease strikes, and how often.
VEXAS syndrome, an illness discovered just two years ago, affects nearly 1 in 4,000 men over 50 years old, scientists estimate January 24 in JAMA. The disease also occurs in older women, though less frequently. Altogether, more than 15,000 people in the United States may be suffering from the syndrome, says study coauthor David Beck, a clinical geneticist at NYU Langone Health in New York City. Those numbers indicate that physicians should be on the lookout for VEXAS, Beck says. “It’s underrecognized and underdiagnosed. A lot of physicians aren’t yet aware of it.”
Beck’s team reported discovering VEXAS syndrome in 2020, linking mutations in a gene called UBA1 to a suite of symptoms including fever, low blood cell count and inflammation. His team’s new study is the first to estimate how often VEXAS occurs in the general population — and the results are surprising. “It’s more prevalent than we suspected,” says Emma Groarke, a hematologist at the National Institutes of Health in Bethesda, Md., who was not involved with the study.
VEXAS tends to show up later in life — after people somehow acquire UBA1 mutations in their blood cells. Patients may feel overwhelming fatigue, lethargy and have skin rashes, Beck says. “The disease is progressive, and it’s severe.” VEXAS can also be deadly. Once a person’s symptoms begin, the median survival time is about 10 years, his team has found.
Until late 2020, no one knew that there was a genetic thread connecting VEXAS syndrome’s otherwise unexplained symptoms. In fact, individuals may be diagnosed with other conditions, including polyarteritis nodosa, an inflammatory blood disease, and relapsing polychondritis, a connective tissue disorder, before being diagnosed with VEXAS.
2023-01-31 07:00:00
Post from www.sciencenews.org
In recent years, the world has been astonished by the increasing number of medical discoveries being made. One of the most alarming is the VEXAS syndrome, a rare and deadly illness that is much more common than doctors originally thought.
VEXAS, which stands for Vascular Endothelial Growth Abnormalities and Spontaneous Syndrome, is a genetic illness that affects the heart and blood vessels. It has been known to cause severe heart issues, stroke, seizures, and other serious health complications. Unfortunately, it is often misdiagnosed or overlooked by medical professionals, resulting in the rapid deterioration of the patient’s health.
Recent research has found that the VEXAS syndrome is much more widespread than doctors previously believed. The condition affects both adults and children, and seems to be particularly common among people of African descent. The findings are deeply concerning, as they indicate that thousands of people may unknowingly be living with this dangerous illness.
Fortunately, scientists have been able to uncover the genetic mutations responsible for the VEXAS syndrome, which could lead to new treatments and advances in medical care. Researchers are also exploring the connection between VEXAS and other rare illnesses, such as polycystic kidney disease and Wilms’ tumor. While more research needs to be done in order to fully understand the condition, it is clear that doctors must be better prepared to recognize and diagnose VEXAS.
It is encouraging to see the medical community working together to raise awareness of the VEXAS syndrome and its potential effects. However, the gravity of the situation demands that further action be taken in order to provide adequate care and support for those affected. The fact that the VEXAS syndrome is more common than once thought underscores the importance of successfully treating this illness before it is too late.