[Two cases of VEXAS syndrome]

Area of Science:

• Genetics
• Immunology
• Hematology

Background:

• VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified condition.
• It results from somatic mutations in the UBA1 gene on the X chromosome.
• Primarily affecting older males, it presents with systemic inflammation and diverse clinical manifestations.

Observation:

• Patients exhibit rheumatological symptoms such as polychondritis, lung infiltrates, and dermatitis.
• Hematological disturbances include macrocytic anemia, myelodysplastic syndrome, and thromboembolic events.
• Characteristic vacuoles are observed in bone marrow hematopoietic cells.

Findings:

• Diagnosis is confirmed by genetic testing of the UBA1 gene in individuals with clinical suspicion.
• Initial treatment often involves prednisolone (15-20 mg/day), though long-term strategies are under investigation.
• Allogeneic stem cell transplantation is the only potentially curative option.

Implications:

• This case report highlights two VEXAS patients, one treated with allogeneic stem cell transplantation.
• Understanding VEXAS syndrome is crucial for timely diagnosis and management.
• Further research is needed to define optimal long-term therapies beyond transplantation.