Despite the pandemic, there were many strides in the field of medicine and research in 2020. For example, researchers first discovered and identified a rare disease called VEXAS syndrome. The condition, which only affects older males, has been stated to have overlapping characteristics with autoimmune disorders and myelodysplastic syndromes (MDS). However, shares Medical XPress, the syndrome may be more common than researchers initially believed. As researchers from the University of Leeds work to discover more about this condition, they are working to understand how many males might have it. See the research published in Blood.
Research
In recent research, researchers from the University of Leeds created a new genetic test which could help to identify and diagnose patients with VEXAS syndrome. Additionally, the researchers seek to screen males who are showing symptoms to determine the condition’s prevalence. So far, the team screened 18 patients whose symptoms matched those of VEXAS syndrome. During this, the researchers discovered that 10 patients had genetic mutations. Eight of these mutations were previously linked to this disorder. However, 2 patients had alternate gene mutations.
Because of this, researchers believe that additional gene mutations may cause the development of VEXAS syndrome. As a result, they feel as though the disease is most likely more common than researchers believe. Moving forward, genetic sequencing and screening may help identify patients with this condition. In doing so, doctors and researchers hope to provide more effective treatment options and a better standard of care.
VEXAS Syndrome
According to the National Institutes of Health (NIH):
vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS)…is caused by mutations in the UBA1 gene.
In another study published in Experimental Hematology and Oncology, the authors note that symptoms of VEXAS syndrome include:
- Vasculitis (blood vessel inflammation)
- Frequent and recurring fevers
- Vacuoles in myeloid cells
- Blood clots
- Pulmonary abnormalities
- Dysplastic bone marrow
- Swelling of cartilage in the nose and ear
- Painful skin rash
Generally, VEXAS syndrome affects males ages 50+. These males are not born with UBA1 gene mutations. Rather, these mutations develop spontaneously throughout one’s life. Without treatment, the condition can be fatal. However, because of its recent discovery, additional research is needed to better understand the disease progression.
