Fully Vaccinated for COVID Manifesting New Disease Called VEXAS

The disease, whose discovery was overshadowed by the COVID pandemic, is more frequent in men over the age of 50, though women can also be affected.

It’s the rare disease you’ve never heard of that’s causing the most anxiety. Researchers in the US are shedding more light on VEXAS Syndrome, a mysterious, newly-discovered medical condition that is suspected to affect more than 15,000 Americans.

VEXAS was first identified only two years ago, when it was believed to be a rare inflammatory disease.

At the time the condition was discovered and named in a paper published in 2020 in the New England Journal of Medicine (NEJM) by a team of scientists at the US National Institute of Health, only 25 men – and no women – were found to be affected.
That same year, COVID-19 was spreading across the world claiming thousands – and later millions – of victims. It’s no surprise that VEXAS, with its very limited impact on the population, didn’t make many headlines at the time.

But now, a new paper published by the JAMA Network last week has brought VEXAS back to the attention of the medical world after it was found that the disease is much more common than researchers initially thought, impacting roughly 1 in 4,000 men over the age of 50.
Scientists at the National Institutes of Health have discovered a rare and deadly inflammatory disease affecting men called the VEXAS syndrome.

The revelation, published Tuesday in the New England Journal of Medicine, may lead to effective therapies for the disease, which has killed 40 percent of known patients.

Those afflicted have an autoinflammatory condition, with symptoms including unexplained fevers, blood clots and inflammation of the cartilage, lung tissue and blood vessels. When blood vessels are inflamed, it can affect the body’s vital organs.

“These patients are really sick. They don’t respond to any treatments, from high doses of steroids to various chemotherapies,” Dr. Dan Kastner, a senior author of the article and scientific director of the Intramural Research Program at the NIH’s National Human Genome Research Institute, said.

Many have spent mounths going from doctor to doctor in search of answers, Kastner added. “It’s incredibly frustrating for those patients, and frightening for their families.”

Here’s what we know about the mysterious new condition.

What is VEXAS?
The curious name of the disease – VEXAS – is an acronym based on a complex set of genomic factors affected by the syndrome: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic.
Historically, scientists have identified new diseases by looking at symptoms. More recently, they’ve been able to go a step further, taking a group of people who have similar symptoms and analyzing their genomes to look for any similarities that could point to a genetic cause.

This time, the scientists flipped the script: The team started with a list of more than 800 genes linked to inflammation, then compared those genes with about 2,500 patients in an NIH database with undiagnosed illnesses.

“Instead of starting with symptoms, start with a list of genes,” Dr. David Beck, a clinical fellow at the National Human Genome Research Institute, and lead author of the new report, said in a statement. “Then, study the genomes of undiagnosed individuals and see where it takes us.”

The journey led them to three patients — all men — who were found to have the same mutation in a gene called UBA1.

The 25 men found to be affected by the condition in 2020 all presented with a mutation in a gene called UBA1, which is considered to be the origin of the disease.

They also all shared the same range of symptoms, including fever, low blood cell count and inflammation.

Other symptoms of VEXAS are painful skin rashes; swelling and pain of the ears, nose and joints; cough and shortness of breath; extreme fatigue, anaemia, and blood clots.

The syndrome tends to affect older people and is much more frequent in men than women, though it can affect both.
According to the researchers studying the syndrome, the disease is “progressive, and it’s severe”. In fact, it can be deadly. The median survival time for patients contracting the disease is 10 years, according to researchers.

As these are symptoms that can be common to many other conditions, people may have been diagnosed with other diseases for years, scientists fear.

Starting from this assumption, the new study – conducted by many of the scientists who had first identified the syndrome – analysed electronic health records of more than 160,000 people in Pennsylvania and found that the genetic mutation linked to VEXAS showed up in 1 in 4,000 older men.

The condition was present in 1 in 26,000 women over the age of 50.

What can we do about it?
The new study can help uncover cases of VEXAS that would have likely been misdiagnosed before. The syndrome can be spotted through a genetic test of the blood of patients and then treated with steroids and other immunosuppressive drugs that can diminish its symptoms.

“The more patients that are diagnosed, the more we’ll learn about the disease,” clinical geneticist and study co-author David Beck told Science News. “This is just one step in the process of finding more effective therapies”.

Beck added that American physicians should be on the lookout for VEXAS, warning that the syndrome is “under-recognised and underdiagnosed. A lot of physicians aren’t yet aware of it”.

While a treatment to permanently cure the syndrome is not yet available, in the future the condition might be eradicated with bone marrow transplants or gene-editing therapy.

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