Table 1.
Summary of the demographics, genetic and clinical characteristics, bone marrow examination, and treatment response of the VEXAS patients.
| Patient 1 | Patient 2 | |
|---|---|---|
| Demographic/genetic | ||
| Age of onset | 69 | 75 |
| UBA1 mutation | p.Met41Thr | p.Met41Leu |
| Clinical spectrum and laboratory findings at presentation | ||
| Hematopoietic | Normocytic anemia | Macrocytic anemia |
| Leukopenia | Polyclonal hypergammaglobulinemia | |
| Lymphopenia | ||
| Thrombopenia | ||
| Lymphoproliferation | Cervical lymphadenopathy | – |
| Splenomegaly | ||
| Constitutional | Fever | Fever |
| Fatigue | Fatigue | |
| Weight loss | Weight loss | |
| Night sweats | – | |
| Raised inflammatory markers | Raised inflammatory markers | |
| Hyperferritinemia | Hyperferritinemia | |
| Mucocutaneous | Panniculitis-like nodular lesions | Urticarial vasculitis |
| Livedo reticularis | ||
| Severe skin reaction to anakinra | ||
| Ophthalmologic | Episcleritis | Episcleritis |
| Musculoskeletal | Arthralgia | Symmetric polyarthritis |
| Nose chondritis | Ear chondritis | |
| Nose chondritis | ||
| Other | Thrombophlebitis | Deep venous thrombosis |
| MAS/HLH | Pulmonary embolism | |
| Bone marrow examination | Moderately cellular | Normocellular |
| Myeloid vacuolization and dysplasia | Myeloid vacuolization and dysplasia | |
| Dyserythropoiesis | Dyserythropoiesis | |
| Micromegakaryocytes | Atypical plasmocytes | |
| Hemophagocytosis (CD68 +) | Plasmocytosis (6%) | |
| MDS | ||
| Criteria/type | Not evaluable due to folic acid deficiency | No |
| Karyotype | 46, XY[10] | 46, XY[10] |
| NGS | DNMT3A (c.1014+1G>T) VAF 31-46% | Negative |
| Treatment (response) | ||
| Corticosteroids* | Prednisone 60mg (+) | Prednisolone 10mg (+) |
| Anti-TNF | – | Infliximab (-) |
| Anti-IL-1 | – | Anakinra (-) |
| Anti-IL-6 | Siltuximab (+) | – |
| Other | Rituximab (-) | Methotrexate (-) |
| Sirolimus (+) | Leflunomide (-) | |
| Colchicine (-) | ||
*Minimal dose with clinical response; +, clinical response; -, no clinical response; HLH, hemophagocytic lymphohistiocytosis; MAS, macrophage activation syndrome; MDS,myelodysplastic syndrome; NGS, next generation sequencing.