Understanding VEXAS

Understanding VEXAS

A rare autoinflammatory syndrome affecting blood cells and multiple organ systems

VEXAS syndrome is a rare, recently discovered autoinflammatory disease that affects adults, typically men over the age of 50. The name VEXAS stands for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome, describing key features of the condition discovered through genetic research.

First identified in 2020, VEXAS is caused by mutations in the UBA1 gene on the X chromosome. These mutations occur in blood stem cells and lead to widespread inflammation throughout the body, affecting blood production, skin, lungs, cartilage, and blood vessels. Because it’s a recently discovered condition, many people with VEXAS may have been previously misdiagnosed with other inflammatory or blood disorders.

VEXAS syndrome overlaps with myelodysplastic syndromes (MDS) and other bone marrow disorders, making accurate diagnosis essential. People with VEXAS often experience severe symptoms that significantly impact quality of life, requiring specialized treatment approaches that address both the inflammatory and blood-related aspects of the disease.

What is VEXAS?

Learn about this newly discovered autoinflammatory syndrome and how it affects the body.

Symptoms

Discover the wide range of symptoms that can affect multiple organ systems.

Diagnosis

Learn how genetic testing and clinical evaluation identify VEXAS syndrome.

Treatment

Explore treatment options for managing inflammation and blood cell production.

Common Symptoms of VEXAS

VEXAS syndrome causes inflammation throughout the body, leading to diverse symptoms:

  1. Blood symptoms: Anemia, low platelet counts, abnormal blood cell production similar to MDS
  2. Skin problems: Painful rashes, nodules, ulcers, or other skin inflammation
  3. Lung issues: Shortness of breath, lung inflammation, blood clots in pulmonary vessels
  4. Cartilage inflammation: Ear or nose cartilage inflammation (relapsing polychondritis)
  1. Blood vessel inflammation: Vasculitis affecting various organs and tissues
  2. Fever and fatigue: Persistent or recurrent fevers, severe exhaustion
  3. Joint pain: Arthritis-like symptoms with joint swelling and pain
  4. Eye inflammation: Uveitis or other inflammatory eye conditions

Quick Reference

Key Facts

  • Discovered in 2020 through genetic research
  • Caused by UBA1 gene mutations on X chromosome
  • Primarily affects men over age 50
  • Overlaps with MDS and inflammatory diseases
  • Requires specialized genetic testing for diagnosis

Next Steps

  • Consult a hematologist familiar with VEXAS
  • Request UBA1 gene mutation testing
  • Discuss treatment options for inflammation
  • Monitor blood counts regularly
  • Connect with VEXAS patient communities