Table 3. Published studies in the literature showed the main characteristics of patients with VEXAS syndrome.
| Features | Beck et al. Ref (1) | van der Made et al. Ref (56) | Muratore et al. Ref (57) | Khitri et al. Ref (53) | Ferrada et al. Ref (60) | Tsuchida et al. Ref (59) | Bourbon et al. Ref (58) | Ciferska et al. Ref (52) | Koster et al. Ref (51) |
|---|---|---|---|---|---|---|---|---|---|
| Gender (M/F), n (%) | 25 (100%) | 12 (100%) | 7 (100%) | 53 (96%) | 13 (100%) | 8 (100%) | 11 (100%) | 3 (100%) | 9 (100%) |
| Median age at onset, years | 64 (45-80) | 67 (55-79) | 64 (46-76) | 66 (61-72) | 62 (48-71) | 72 (66-81) | 66 (47-83) | 74 (68-76) | 70 (65-72.5) |
| Fever, n (%) | 23 (92%) | 11 (92%) | 7 (100%) | 33 (60%) | 13 (100%) | 6 (75%) | 10 (91%) | 1 (33%) | 8 (88%) |
| Artralgia/Arthritis, n (%) | NR | 4 (33%) | NR | 36 (67%) | 6 (46%) | 2 (25%) | 11 (100%) | 1 (33%) | 5 (55%) |
| Vasculitis, n (%) | 4 (16%) | 2 (16%) | 7 (100%) | 3 (6%) | NR | NR | 7 (64%) | 3 (100%) | 4 (44%) |
| Eyes involvement, n (%) | NR | 5 (42%) | NR | 30 (57%) | NR | 3 (38%) | 5 (46%) | 2 (67%) | 4 (44%) |
| Skin involvement, n (%) | 22 (88%) | 10 (83%) | 5 (71%) | 44 (82%) | 11 (85%) | 7 (88%) | 11 (100%) | 3 (100%) | NR |
| Pulmonary, n (%) | 18 (72%) | 8 (67%) | 6 (85%) | 13 (46%) | 10 (77%) | NR | 5 (46%) | 1 (33%) | NR |
| Chondritis, n (%) | 16 (64%) | 6 (50%) | 1 (14%) | 52 (98%) | 13 (100%) | 8 (100%) | 5 (46%) | 3 (100%) | 5 (55%) |
| Hematologic, n (%) | macrocytic anaemia 24 (96%), MDS 6 (24%), MM or MGUS 5 (20%) | Macrocytic anemia 11 (%) MDS 6 (%) |
Macrocytic anemia 6 (%) | MDS 41 (75%) | MDS 3 (23%) MGUS 1 (8%) MM 1 (8%) |
macrocytic anaemia 7 (88%), MDS 4 (50%) | macrocytic anaemia 7 (64%), MDS 6 (54%) | macrocytic anaemia 2 (67%) MDS 1 (33%) |
macrocytic anemia 9 (100%) MM 1 (%) MDS 1 (%) |
| UBA mutation, n (%) | p.Met41Thr 15 (60%) p.Met41Val 5 (20%) p.Met41Leu 5 (20%) |
p.(Met41Thr), 12 (%) | p.Met41Thr | NR | p.Met41Thr 8 (62%) p.Met41Val 2 (15%) p.Met41Leu 3 (23%) |
p.Met41Thr 3 (37.5%) p.Met41Val 2 (25%) p.Met41Leu 3 (37.5%) |
p.Met41Thr 5 (46%) p.Met41Val 3 (27%) p.Met41Leu 1 (9%) |
p.Met41Thr 2 (67%) p.Met41Leu 1 (33%) |
p.Met41Thr 9 (100%) |
| CRP (median) (mg/L) | 73 (18-128) | 185 (61-407) | 152 (41-250) | 69 (30-107) | 17.7 (9.6-99.5) | NR | 114 (16.7-205) | 73 (63-89) | NR |
| ESR (median) mm/h | 97 (64-124) | 111 (71-130) | 94 (50-137) | NR | 66.5 (42-110) | NR | NR | NR | NR |
CRP:C-reactive protein; ESR: erythrocyte sedimentation rate; MDS: myelodysplastic syndrome; MGUS: monoclonal gammopathy of undetermined significance: UBA: ubiquitin-associated domain; NR:not reported.