Up to 15,500 Americans over the age of 50 could be affected by a newly discovered disease called VEXAS syndrome, as per a recent study by researchers at New York University Grossman School of Medicine published in the Journal of the American Medical Association. Out of this number, about 13,200 are men and 2,300 are women.
This rare syndrome has a high mortality rate, with about half of those diagnosed with it, mostly men, passing away within five years. The syndrome is characterized by unexplained fevers and low blood oxygen levels in individuals who have been diagnosed with other diseases such as rheumatoid arthritis, lupus, and blood cancer like leukemia, as stated in a news release from NYU Grossman School of Medicine.
Dr. David B. Beck, the lead investigator of a recent study on VEXAS syndrome, highlights the need for physicians to be aware of this newly discovered condition as it is more prevalent than several other rheumatologic conditions. "Physicians should consider VEXAS syndrome as a potential diagnosis for patients experiencing persistent and unexplained inflammation, low blood cell levels or anemia," says Beck, who serves as an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology at NYU Langone Health, as well as the director of NYU Langone's clinical Inflammatory Disease Genetics Program.
If you suspect you may be suffering from VEXAS syndrome, be on the lookout for symptoms such as unexplained fevers, recurrent blood clots, low blood oxygen levels, and lung damage. These signs typically appear in individuals with other underlying health conditions like lupus, rheumatoid arthritis, and leukemia. Being mindful of these symptoms can aid in early detection and management of this rare syndrome.
1) Understanding VEXAS Syndrome: What You Need to Know
Dr. Matthew Koster, a clinical rheumatologist at the Mayo Clinic in Rochester, Minnesota, sheds light on VEXAS syndrome, a recently described disease that was first recognized through the National Institutes of Health and introduced in late 2020. "Although this is a new condition, it is becoming more commonly identified as we understand the phenotype of affected patients. It is crucial for healthcare providers to be aware of this condition," says Koster.
Previously, VEXAS syndrome was a mysterious illness until its genetic basis was identified in 2020. The latest research by the NYU Grossman School of Medicine offers the first insight into the prevalence of this disease in the US. VEXAS is an acronym that stands for the syndrome's biological traits, which include Vacuoles in blood cells, E1 enzyme, X-linked inheritance, Autoinflammatory features, and Somatic characteristics.
2) Understanding the Risk Factors for VEXAS Syndrome
According to Dr. David B. Beck, the lead investigator of a recent study on VEXAS syndrome, the research provides the first indication of how prevalent the disease is in the US, especially among men, who also happen to have a higher mortality rate from the condition. "Our study sheds light on the prevalence of VEXAS syndrome and highlights the increased risk of mortality among men," says Beck.
During the study, researchers examined electronic health records of 163,096 mostly white men and women in Pennsylvania. Of these individuals, 12 had a UBA1 genetic mutation, and all showed VEXAS symptoms. Based on these findings, the study estimates that one in 4,269 American men over the age of 50 and one in 26,238 women over the age of 50 are at risk of developing the syndrome.
3) Recognizing the Symptoms of VEXAS Syndrome
VEXAS syndrome exhibits a range of symptoms that impact various organ systems, as per the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Inflammatory symptoms include skin rashes, pain and swelling in the ear and nose, cough and shortness of breath, joint pain and swelling, and blood vessel inflammation.
Other symptoms may include fever, extreme fatigue, anemia, low platelets, blood clots, polychondritis, polyarteritis nodosa, sweet syndrome, and myelodysplastic syndrome. Dr. Matthew Kloster, a clinical rheumatologist at the Mayo Clinic, explains that identifying patients with VEXAS syndrome can be challenging because their symptoms may be similar to those of other rheumatic diseases. He adds that individuals with VEXAS syndrome may also experience fever, chills, night sweats, weight loss, and eye inflammation, such as swelling around the eyes or the outer portion of the eye itself.
4) Managing and Treating VEXAS Syndrome
Diagnosis of VEXAS syndrome is performed through genetic testing that looks for mutations in the UBA1 gene located on the X chromosome. While there is no established standard treatment for VEXAS syndrome, high-dose steroids, JANUS kinase inhibitors, and immunosuppressants can alleviate inflammatory symptoms. In certain cases, bone marrow transplants may also be necessary.
The multisystemic impact of VEXAS syndrome necessitates a team of medical professionals, including a rheumatologist and hematologist, to address the various organ systems affected, as per the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Managing VEXAS syndrome requires a comprehensive approach, and physicians may need to tailor treatment plans based on each patient's specific symptoms and needs.
5) Actions You Can Take
If you're experiencing symptoms that may indicate VEXAS syndrome, it's recommended that you consult your doctor and undergo genetic testing, which can provide conclusive results.
Dr. Peter Grayson, the chief of the Vasculitis Translational Research Program and the acting director of the Rheumatology Fellowship Program at the National Institute of Arthritis and Musculoskeletal and Skin Diseases, explains that VEXAS syndrome can be identified among patients with relapsing polychondritis based on a few easily measured variables. For instance, male patients with specific blood count abnormalities and older patients with relapsing polychondritis (50 years or older) are at increased risk of having this genetic disease.
Seeking medical attention and undergoing genetic testing can facilitate early detection and management of VEXAS syndrome.