Table 1.
Summary of the demographic characteristics and systemic features of all cases.
| Case | Gender | Age at diagnosis | Haematologic disorder | Mutation | Systemic inflammation features & survival | Treatment |
|---|---|---|---|---|---|---|
| 1 | M | 87 | Macrocytic anaemia | Valine |
None Alive |
GCS |
| 2 | M | 80 | MDS | Splice Acceptor Site |
Recurrent fever, SSS, GGOs and pleural effusion, laryngitis, sinus vein thrombosis Deceased |
GCS, TOC |
| 3 | M | 74 | MDS | Leucine |
Recurrent fever. SSS, aortitis on CT, cutaneous vasculitis, severe drug reaction to anakinra, GGOs and pleural effusion Alive |
GCS, HCQ, MTX, COL, DAP, ANA |
| 4 | M | 75 | MDS | Valine |
Recurrent fever, SSS, severe drug reaction to anakinra, DVT, superficial thrombophlebtits, asymptomatic GGOs and pleural effusion Alive |
GCS, TOC, COL |
| 5 | M | 75 | MDS | Valine |
Recurrent fever, SSS, severe drug reaction to anakinra, PAN like syndrome, superficial thrombophlebtits, GGOs and pleural effusion Deceased |
GCS, MTX, CsA, CYC, ANA, TOC, CAN |
| 6 | M | 76 | MDS | Valine |
Recurrent fever, SSS, myositis, severe symptomatic GGO’s (respiratory failure) Alive |
GCS, TOC |
| 7a | M | 75 | MDS | NA |
Recurrent fever, SSS, DVT, superficial thrombophlebitis, pericarditis, symptomatic GGOs Deceased |
GCS |
| 8a | M | 88 | MDS | NA |
Recurrent fever, SSS, recurrent ear chondritis, motor neuropathy Deceased |
GCS, MTX |
M male, MDS myelodysplastic disorder, PAN polyarteritis nodosa, SSS skin sweet syndrome, GGO pulmonary ground glass opacity, DVT deep vein thrombosis, GCS glucocorticosteroids, TOC tocilizumab, HCQ hydroxychloroquine, MTX methotrexate, COL colchicine, DAP dapsone, ANA anakinra, CsA cyclosporine A, CYC cyclophosphamide, CAN canakinumab.
aCase 7 and 8 considered presumed VEXAS. Genomic sequencing was not performed and post-mortem revision of the bone marrow samples demonstrated vacuoles.