VEXAS syndrome

VEXAS syndrome is an adult-onset inflammatory condition that affects only males. It is caused by somatic mutations in the UBA1 gene rather than inherited mutations. Most people with this condition develop symptoms later in life, with an average onset around 64 years of age. People with VEXAS syndrome can experience a range of inflammatory signs. These include recurrent fevers, lung and skin inflammation, vasculitis, deep vein thrombosis, and inflammation of ear and nose cartilage. Laboratory studies may show abnormalities such as macrocytic anemia and increased markers of inflammation, and about half of affected individuals have positive autoantibodies. A bone marrow biopsy often reveals distinctive changes, such as vacuolization in precursor blood cells.

Common symptoms include recurrent fevers, lung and skin inflammation, vasculitis, and issues like deep vein thrombosis and joint pain. Inflammation of ear and nose cartilage is also reported. Laboratory findings such as macrocytic anemia and high levels of inflammation markers are frequent, and many people show positive autoantibodies.

VEXAS syndrome is caused by somatic mutations in the UBA1 gene, meaning the mutation occurs after birth and is not inherited from a person’s parents. This condition primarily affects males and is recognized as an adult-onset disorder, which adds to its complexity.

Treatment for VEXAS syndrome can be challenging as the condition does not respond well to standard rheumatologic medications. Management is typically supportive, and options remain limited while researchers work to better understand effective approaches.

The outlook for people with VEXAS syndrome can be serious due to the many inflammatory complications of the condition. The features of the disease, including resistance to conventional treatments, may lead to a higher risk of premature death. Quality of life varies among those affected.

Current research is focused on better understanding the causes and biological mechanisms of VEXAS syndrome. Studies are ongoing to explore potential treatment options. Information about research is currently limited for this condition.