VEXAS syndrome: An update.

Area of Science:

• Immunology
• Genetics
• Hematology

Background:

• VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently identified autoinflammatory disorder.
• It primarily affects males over 50 and stems from somatic mutations in the UBA1 gene, crucial for the ubiquitin system.

Purpose of the Study:

• To provide a comprehensive review of VEXAS syndrome.
• Focus on pathophysiology, diagnostic criteria, and current therapeutic strategies.

Main Methods:

• Literature review of VEXAS syndrome.
• Synthesis of current knowledge on clinical presentation, genetics, and management.

Main Results:

• VEXAS syndrome involves a wide range of inflammatory symptoms (fever, dermatosis, chondritis, pulmonary and ocular inflammation, thrombosis).
• Hematological findings include macrocytic anemia, thrombocytopenia, and myeloid/erythroid precursor cell vacuolation.
• High morbidity and mortality are associated with the syndrome.

Conclusions:

• Current therapeutic approaches include corticosteroids, JAK inhibitors, tocilizumab for inflammation, and azacitidine or stem cell transplantation for UBA1-mutated cells.
• Supportive care, including transfusions and prophylaxis, is essential.
• Further research is needed to refine VEXAS syndrome management.