Table 1.
Clinical Characteristics of Three Cases of VEXAS Syndrome Treated With Azacytidine.
| Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
| Mutation UBA1a[first presentation] | c.122T>Cb (VAF 86%) p.Met41Thr |
c.121A>Gc (VAF 56%) p.Met41Val |
c.122T>Cc (VAF 86%) p.Met41Thr |
| Co-occurring mutations |
DNMT3Ad c.2062C> T(VAF 59%)f Arg688Cys |
DNMT3Ad c.2645G>A (VAF 30%) Arg882His |
TET2e c.2290dup (VAF4%) p.(Gln764Profs*5) |
| Year of first symptoms | 2009 | 2018 | 2011 |
| Follow-up | Alive | Alive | Alive |
| Age at presentation (year) | 61 | 77 | 67 |
| Fever | + | + | + |
| Sweet syndrome | + | − | + |
| Cutaneous small-vessel vasculitis | + | + | + |
| Chondritis | + | − | + |
| Pulmonary infiltrates | − | + | − |
| Venous thromboembolism | − | − | − |
| Scleritis | + | − | + |
| Periorbital inflammation | − | + | − |
| Abducens paralysis | − | − | − |
| Axonal polyneuropathy | − | + | + |
| Macrocytic anemia | + | + | + |
| Thrombocytopenia | + | − | + |
| Leukopenia | − | − | + |
| C-reactive protein (mg/L)g median (range) | 189 (62–183) |
160 (58–221) |
150 (182–343) |
| ESR (mm/h) median (range) |
119 (98–150) |
115 (49–150) |
109 (50–119) |
| Bone marrow vacuoles | |||
| Erythropoiesis | + | − | + |
| Granulopoiesis | + | + | + |
| Bone marrow dysplasia, range dysplasia score | |||
| Erythropoiesis | <10%−39% | 0%−3% | 10%−26% |
| Granulopoiesis | 2%−14% | 0%−12% | 4%−19% |
| Megakaryopoiesis | 0%−47% | 0%−13% | 22%−23% |
| Bone marrow blast percentage | <2% | <2% | <5% |
| Bone marrow cytogenetics | 46XY | 46XY | 46XY |
| Response to corticosteroids | ± | ± | ± |
| Response to colchicin | − | N/A | N/A |
| Response to DMARDs | − | − | − |
| Response to anti-TNFα | N/A | − | N/A |
| Response to IVIG | − | N/A | N/A |
| Response to ESA | − | N/A | − |
| Response to azacytidine | + | + | − |
aNM_003334.3 (UBA1).
bBone marrow.
cPeripheral blood.
dNM_022552.4 (DNMT3A).
eNM_001127208.2 (TET2).
fSince the DNA for the detection of this DNMT3A variant at diagnosis was of limited quantity and quality no conclusion other than that the majority of cells carry a DNMT3A mutation can be drawn.
gValues at flares of disease to avoid bias by treatment or intercurrent infections.
DMARDs = disease modifying antirheumatic drugs: azathioprine, mycophenolate, methotrexate; ESA = erythroid stimulating agent; ESR = erythrocyte sedimentation rate; IVIG = intravenous immunoglobulins; N/A = not applicable.