VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome

Epidemiology

xxx
xxx
xxx
- Epidemiology
  - Median Age: 68 y/o (Range: 57-89 y/o) (Resp Med, 2023) [MEDLINE]
  - All Males (Resp Med, 2023) [MEDLINE]
- Physiology
  - Most Patients (84% of Cases) Demonstrate Canonical UBA1 Methionine-41 (p.Met41) Somatic Mutations in Hematopoietic Cells (Resp Med, 2023) [MEDLINE]
- Diagnosis
  - Chest Computed Tomography (CT) (see Chest Computed Tomography)
    - Abnormal in 91% of Cases
    - Parenchymal Opacities (74% of Cases): most commonly ground-glass infiltrates (47% of cases)
    - Mediastinal lymphadenopathy (29% of Cases)
    - Airway Abnormalities (29% of Cases)
    - Pleural Effusion (24% of Cases)
  - Pulmonary Function Tests (PFT’s) (see Pulmonary Function Tests)
    - Pulmonary Function Test Results (Available in 40% of Patients) Demonstrated Normal PFT’s or Mild Restriction (Resp Med, 2023) [MEDLINE]
  - Bronchoscopy with Bronchoalveolar Lavage (BAL) (see Bronchoscopy)
    - Neutrophilic Alveolitis
  - Lung Biopsy (see xxxx)
    - Parenchymal Inflammation
- Clinical (Resp Med, 2023) [MEDLINE]
  - Fever (82% of Cases)
  - Respiratory Symptoms (93% of Cases)
  - Skin Lesions (91% of Cases)
- Treatment
  - All Patients Received Glucocorticoid with At Least Partial Response, But Relapses were Common (Requiring Other Immunosuppressives) (Resp Med, 2023) [MEDLINE]
  - Pulmonary Involvement Appeared to Improve with Tocilizumab and JAK Inhibitors (Resp Med, 2023) [MEDLINE]