Vexas syndrome, a new autoimmune disease that “mimics” other pathologies. Here are the symptoms

It mainly affects the bone marrow and blood and according to the latest research it may be more common than you think, particularly among men over the age of 50. First identified in late 2020, the Vexas syndrome it is an autoimmune disease linked to a somatic mutation in the UBA1 gene in the bone marrowwhich means that it is acquired in a person’s lifetime, not inherited.

It can cause inflammation of multiple organs, including the skin, lungs, joints and blood vessels, and because it’s a very new condition, researchers in the study published today in the Journal of the American Medical Association (JAMA) sought to identify its prevalence in the population. While still rare, researchers have concluded that it can affect up to one in 4,269 men and one in 26,238 womenboth of them over the age of 50much more than expected for a newly discovered pathology.

What we knew so far about Vexas syndrome

Vexas disease was first identified in 2020, when a team of researchers discovered the UBA1 gene mutation in a group of patients who were unable to get a clear diagnosis or effective treatment for a variety of symptoms that they were encountering. “At first, it wasn’t entirely clear to us that these patients were complaining of the same symptoms, also because with rheumatological diseases, symptoms can vary over time,” said David Beck, assistant professor at the Grossman School of Medicine in New York. University and co-author of several studies on Vexas syndrome, interviewed by the magazine Health. “But when we found enough patients we were able to spot a lot of similarities in their symptoms and clinical manifestations.” That research, published in December 2020 in the New England Journal of Medicinehas made it possible to give both a definitive diagnosis to the 25 patients looking for answers, and the name of “Vexas syndrome” to this disease, which is the acronym of: vacuoles (in bone marrow cells), enzyme E1linked to the chromosome x, autoinflammatory And somatic: all the key features of the syndrome.

What the new study reveals

For the new study, researchers analyzed the genetic data of more than 163,000 Pennsylvania patients, looking for the UBA1 gene variant associated with VEXAS syndrome. “We looked at the healthcare database of each individual who had mutations in UBA1 and looked at how similar they were to each other, with what symptoms and what diagnoses,” explained David Beck. Of these participants, 11 had the UBA1 gene variant – two women and nine men – and all 11 also had symptoms consistent with Vexas syndrome. Overall, it was concluded that one in 13,591 people may have Vexas syndrome, with a higher incidence in men over the age of 50.

Those symptoms that “deceive”

One of the main reasons the syndrome has been difficult to pin down is because the disease has a wide range of symptoms that often mimic other pathologies. In other words, Vexas existed long before it was identified, yet sufferers were classified under other conditions.

“Most of the newly discovered diseases are very, very rare to the point that a doctor may never see them in his life,” he explained to the magazine. Health Peter Graysonresearcher of National Institute of Arthritis, Musculoskeletal, and Skin Diseases researchal vasculitis. “In this case, however, although it is a rare disease, it is more common than expected”.

Patients with Vexas syndrome often present temperature And extreme tiredness, two symptoms that can be attributed to many different diseases. The disease can also manifest itself in a variety of ways on the skin, in the lungs and joints, and within a person’s vascular system or blood vessels. It can therefore involve an inflammation in the form of rashat the level of the cartilage with swelling of the ears or nose or also joint inflammationto the lungs and even ai blood vessels.
These different manifestations may initially lead to seeking the help of rheumatologists, hematologists, dermatologists or other physicians, which has resulted in an increased likelihood of being misdiagnosed for a number of different conditions.

Thanks to new studies, doctors are now more aware and know what to look for to diagnose it. If you have symptoms that may be indicative, a bone marrow biopsy is suggested, to give the hematologist a closer look at your blood: People with Vexas syndrome usually also have bubbles or vacuoles in their blood. Further genetic testing may eventually identify the mutation in the UBA1 gene.

Vexas syndrome, which therapy?

The fact that it is a recently identified disease raises many questions for scientists about how it should be treated, also because it is a disease associated with high morbidity and mortality. At present, Vexas patients can take anti-inflammatory drugs called glucocorticoids to help manage symptoms, but possible unwanted side effects cannot be ruled out.

The disease is often quite severe and can cause blood clots, anemia, fatigue and low platelets, sometimes even blood cancers. One potentially effective treatment is bone marrow transplantation: “In really severe cases or with various blood problems, there have been over 20 patients who have had a bone marrow transplant,” said Dr. Beck. “This may be a curative therapy because it replaces the mutation in the blood, but it carries significant risks associated with the procedure.” The commitment of doctors therefore continues in the search for adequate treatments and in the collection of more information on the disease and in particular on new diagnoses: knowing it better will help to understand what is the best way to treat it.