Vexas syndrome emerged in medical literature in 2020 as a condition marked by painful skin rashes and widespread inflammation affecting blood vessels, lungs, joints, and the skin itself. The disorder tends to affect men more often than women and is a key reason why clinicians monitor inflammatory signs closely in older adults.
VEXAS syndrome is an inflammatory disease that centers on the bone marrow and blood. It was first described to the public health community in late 2020 and is known for causing painful rashes along with inflammation in the blood vessels, lungs, joints, and skin.
VEXAS stands for the major features observed in the syndrome. Diagnosis hinges on identifying altered vacuoles in bone marrow cells and recognizing a breakdown of the E1 protein caused by a mutation in the UBA1 gene located on the X chromosome. This genetic disruption triggers an autoimmune reaction in which the immune system targets healthy tissue. The mutation is somatic, meaning it arises during adulthood rather than being inherited through the germ line.
VEXAS syndrome presents a diagnostic challenge due to its broad and nonspecific symptom profile, which often overlaps with other inflammatory or autoimmune conditions. Patients may experience cough, fever, pain and swelling in the ears, nose, and joints, painful rashes, fatigue, and shortness of breath.
Evidence indicates that VEXAS predominantly affects men over the age of fifty. The gender difference is linked to the X chromosome composition. Women possess two X chromosomes, which provides a potential spare gene to counterbalance a single defective UBA1 copy, reducing the immediate impact of the mutation on disease onset.
Management of VEXAS typically involves anti inflammatory strategies to alleviate symptoms, with glucocorticoids commonly used to control flare ups. In some cases, bone marrow transplantation has been explored as a way to restore normal blood cell production. However, this approach carries substantial risks and is considered in carefully selected patients. Without treatment, the syndrome can lead to complications such as anemia, clotting disorders, and, in some instances, progression toward hematologic malignancy.
VEXAS carries a significant impact on survival, and research suggests that five year survival rates vary based on the mutation type and the patient’s overall health status. Ongoing studies aim to refine diagnostic criteria, improve treatment options, and identify predictors of prognosis to support better long term outcomes for affected individuals.
Earlier scientific reports included statements about smoking and age, but such findings should be interpreted with caution. The relationship between smoking status, age, and cancer risk is complex and continues to be explored in broader populations.