What Experts Have Realized With The Newly Identified VEXAS Syndrome

An autoimmune disease, called VEXAS syndrome, was first recognized by researchers in 2020, as per a 2020 study published in The New England Journal of Medicine. But a 2023 study published in the Journal of the American Medical Association (JAMA) explored the syndrome more extensively and discovered that it may be more common than they thought, especially in men.

VEXAS stands for vacuoles in blood cells, E1 enzyme, X-linked, autoinflammatory, and somatic (per Healthline). It's an autoimmune condition caused by a mutation in the UBA1 gene, mostly affecting those over the age of 50. The mutated gene has not typically been found in family members, meaning that it may not be hereditary. However, it generates later on. The syndrome's symptoms can be similar to those of other rheumatic or blood diseases, but there's a distinction in the cause, treatment, and monitoring, and is usually more severe. In fact, VEXAS can be more common in people who have other diseases, such as lupus, blood cancers, and rheumatoid arthritis.

Signs of the syndrome are brought on by inflammation and impact a number of organs, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Symptoms include skin rashes, which may be painful, fever, severe fatigue, shortness of breath, coughing, joint pain and swelling, blood clots, and ear and nose swelling. While there's no standard treatment for VEXAS since it's still being researched, treatment usually involves steroids and immunosuppressants.

In the new study via JAMA, experts analyzed the health records of 163,096 people from 1996 to 2022. None of the participants had been diagnosed with VEXAS, but researchers could see retrospectively that 11 people had the UBA1 variant, as well as an additional person who had a variant that was "highly suspicious" (via CNN). This meant that 1 in 4,269 men over the age of 50 had the syndrome, along with 1 in 26,238 women of the same age, making it much more common than previously thought. The syndrome is predominant in men because it's X-linked, meaning on the X chromosome. Since women have two X chromosomes and men only have one, men are more likely to experience manifestations of the mutation. Of the 12 participants identified with the genetic mutation, only three are still alive. In fact, the five-year survival rate for VEXAS is 63%, as per a 2022 review published in Expert Review of Clinical Immunology.

Keep in mind, the recent study points to the fact that many people could have this autoimmune condition and not even know it (via Healthline). Symptoms can be wide-ranging, making the syndrome difficult to diagnose. Additionally, treatment options are limited, so more effective treatments are needed. Researchers also said that more studies are needed on larger, more diverse populations, as 94% of participants in the study were white, as per the 2023 study.