Home » What is VEXAS syndrome, a new autoinflammatory disease that can be lethal – breaking latest news

What is VEXAS syndrome, a new autoinflammatory disease that can be lethal – breaking latest news

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What is VEXAS syndrome, a new autoinflammatory disease that can be lethal – breaking latest news

Is called VEXAS syndromeit’s a new one autoinflammatory disease rare and serious that, if left untreated, it can be lethal. The disease, induced by innate immunity, in particular by the cytokine interleukin -1, has clinical features that place it between rheumatological and hematological diseases. Those who have it often wander from one specialist to another (pulmonologist, rheumatologist, urologist, dermatologist) in an attempt to give a name to a pathology that has a great impact on quality of life. Although the syndrome is rare, it has one high mortality: About half of people over 50 die within 5 years of diagnosis. “THE symptoms of the syndrome are several: unexplained fever, low blood oxygen levelssigns of chronic inflammation, anemia, reduced white blood cellssymptoms common to myelodysplastic syndromes, namely, bone marrow diseases which lead to a reduced production of cells,” he explains Charles Selmihead of rheumatology and immunology at the Humanitas hospital in Milan and professor at Humanitas University.

The UBA1 mutation

VEXAS stands for «vascuoles, E1 enzyme, X-linked, autoinflammatory, somatic» and is based on the most important features of the syndrome. The fact that arriving at a diagnosis is difficult has a good reason: until recently, its existence was not known. The syndrome was only discovered in 2020 by National Institutes of Health scientists who described it in the New England Journal of Medicine. «The disease was identified through genomics “in reverse” – says Selmi -. There were a number of case samples of unnamed diseases in the NIH biobank, and the scientists sequenced the genome of these cases, finding two patients with the UBA1 mutation, which is created during life, linked to the X chromosome». Since the disease was discovered and searched for, it has been found all over the world in people who until then had had unclear diagnoses, mainly vasculitis, which is inflammation of veins or arteries.

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How common is the syndrome?

The inflammatory syndrome appears to be more widespread than previously thought according to the results of a survey that studied its prevalence just published in JAMA. Research estimates that approx 1 in 13,500 people in the United States have mutations in the UBA1 genewhich lead to develop VEXAS syndrome with age. In the observational study, researchers analyzed the medical records of 163,096 men and women enrolled in the Pennsylvania health system from January 1996 to January 2022 who agreed to undergo a blood DNA screen to identify genetic disorders. Eleven of them had the UBA1 mutation, all with VEXAS symptoms (only two women in the group). Only three of them are still alive. Seven had arteritis, which is a vasculitis that affects the arteries, four had psoriasis or sarcoidosis which causes small, swollen lumps to form on the body. All suffered from anemia. From a statistical point of view it means that 1 man out of 4,269 over 50 and 1 woman out of 26,238 has or is at risk of developing the syndrome. For researchers the prevalence is significant compared to other inflammatory conditions such as vasculitis and myelodysplasia. “This study has shown that there are probably thousands of patients in the United States who have this disease, and in the vast majority of cases this it is not recognized because doctors don’t consider broadening the spectrum for diagnosis,” he says David Beckgeneticist and principal investigator of the study.

Disease is not hereditary, diagnosis with a genetic test

VEXAS syndrome is not hereditary, so people with it do not pass it on to their children. The UBA1 gene is located on the X chromosome. For this reason it predominantly affects men, carriers of only one X chromosome. Women have two X chromosomes so if one is affected by the mutation, the other intervenes by silencing the defective one. The good news is that there is a genetic testing to diagnose the disease to which all those elderly patients, with systemic inflammation and low red blood cells who do not respond to other treatments, if not to cortisone or other immunosuppressants which however have well-known side effects, may undergo.

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The therapies

“There is no cure or standardized treatment but the symptoms can be managed with steroid or immunosuppressant drugs. Today it is treated with the same drugs that we use in autoinflammatory diseases, namely glucocorticoids and interleukin 1 inhibitors such as the biological drugs anakinra and canakinumab» concludes Selmi. “An effective treatment may be bone marrow transplantation which certainly carries risks but this underlines how serious the disease is,” comments Becks. In Italia VEXAS syndrome was first diagnosed in December 2022 in Reggio Emilia and since then the Rheumatology and Hematology departments of many Italian hospitals have equipped themselves to carry out genetic tests on patients whose diagnosis is uncertain.

The curiosity

A curiosity. In an episode of the popular TV series Chicago Med, one of the doctors dealing with a patient with an unknown disease exclaims in front of his colleagues: «I just read about the new VEXAS syndrome in New England, this is it!». It happened just two to three months after the real publication in the scientific journal. The (real) doctors at the National Institute of Health are said to be proud of the pop breakthrough of their discovery.

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