Table 2.
Demographics, clinical and analytical features of genetically confirmed patients with VEXAS syndrome allo-HSCT, allogeneic haematopoietic stem cell transplantation; MAS, macrophage activation syndrome; Hb, haemoglobin; MCV, mean corpuscular volume; WBC, white blood cells count; ESR, erythrocyte sedimentation rate; NSAID, non-steroid anti-inflammatory drugs; IVIG, intravenous immunoglobulins; TNF, tumour necrosis factor; IL-6, interleukin 6; IL-1, interleukin 1.
| General features | ||
| Gender (male/female)—n | 30/0 | |
| Alive/Deceased—n (%) | 18/12 (60.0%/40.0%) | |
| Mean age at disease onset (range) | 67.5 years (52–86) | |
| Mean age of alive patients (range) | 72.9 years (56–88) | |
| Mean age at death/allo-HSCT (range) | 71 years (55–79) | |
| Mean time of disease evolution of alive patients (range) | 4.0 years (0.5–8) | |
| Mean time of disease until death/allo-HSCT (range) | 5.3 years (1–11) | |
| Clinical manifestations | ||
| Recurrent skin manifestations—n (%) | 27/30 (90.0%) | |
| Erythematous papules/plaques/nodules—n (%) | 20/30 (66.6%) | |
| Purpuric papules/plaques—n (%) | 14/30 (46.7%) | |
| Panniculitis—n (%) | 9/30 (30.0%) | |
| Livedo racemosa—n (%) | 7/30 (23.3%) | |
| Recurrent fever—n (%) | 20/30 (66.7%) | |
| Pulmonary manifestations—n (%) | 20/30 (66.7%) | |
| Ocular manifestations—n (%) | 17/30 (56.7%) | |
| Palpebral oedema—n (%) | 8/30 (26.7%) | |
| Conjunctivitis—n (%) | 6/30 (20.0%) | |
| Uveitis—n (%) | 5/30 (16.7%) | |
| Arthritis—n (%) | 16/30 (53.3%) | |
| Recurrent chondritis (ear/nose)—n (%) | 16/30 (53.3%) | |
| Chondritis (non-ear/non-nose)—n (%) | 3/30 (10.0%) | |
| Venous thromboembolism—n (%) | 12/30 (40.0%) | |
| Arterial thrombosis—n (%) | 4/30 (13.3%) | |
| MAS-like episodes—n (%) | 2/30 (6.7%) | |
| Analytical parameters | Reference range | |
| Hb (mean; range) (g/L) | 99.2 (59–161) | 130–170 |
| Hb <120 g/L (%; n/total) | 86.9% (730/840) | |
| MCV (mean; range) (fL) | 104.5 (85–133) | 80–100 |
| MCV >100 fL (%; n/total) | 72.4% (608/840) | |
| Haematocrit <36% (%; n/total) | 83.8% (704/840) | |
| Platelets (mean; range) (109/L) | 150.5 (4–753) | 140–400 |
| Thrombocytopenia (platelet count <140.109/L) (%; n/total) | 48.2% (405/840) | |
| WBC (mean; range) (109/L) | 5.9 (0.2–33.3) | 4.0–11.0 |
| Leucopenia (WBC <4.109/L) (%; n/total) | 32.9% (271/823) | |
| Neutropenia (neutrophil count <2.5.109/L) (%; n/total) | 40.6% (333/821) | |
| Lymphopenia (lymphocyte count <0.9.109/L) (%; n/total) | 39.1% (321/821) | |
| Ferritin (mean; range) (ng/mL) | 1163 (54–11 931) | 20–400 |
| Increased ferritin (>400 ng/mL) (%; n/total) | 77.1% (195/253) | |
| High increased ferritin (>1000 ng/mL) (%; n/total) | 44.7% (113/253) | |
| ESR (mean; range) (mm/hour) | 78.5 (2–141) | <10 |
| Increased ESR (>10 mm/hour) (%; n/total) | 95.1% (365/384) | |
| High increased ESR (>50 mm/hour) (%; n/total) | 73.2% (281/378) | |
| Bone marrow vacuoles (%; n/total) | 100% (23/23) | |
| Treatments/Outcome | ||
| Colchicine | 11/30—complete response 0% | partial 18.2% | negative 81.8% | |
| NSAIDs | 17/30—complete response 0% | partial 52.9% | negative 47.1% | |
| Glucocorticoids | 30/30—complete response 70.0% | partial 26.7% | negative 3.3% | |
| Methotrexate | 17/30—complete response 0% | partial 35.3% | negative 64.7% | |
| Mycophenolate mofetil | 6/30—complete response 0% | partial 16.7% | negative 83.3% | |
| Azathioprine | 9/30—complete response 0% | partial 22.2% | negative 77.8% | |
| Cyclophosphamide | 2/30—complete response 0% | partial 50% | negative 50% | |
| IVIGs | 4/30—complete response 0% | partial 25% | negative 75% | |
| Anti-TNF | 3/30—complete response 0% | partial 0% | negative 100% | |
| Anti-IL-6 | 8/30—complete response 12.5% | partial 25% | negative 62.5% | |
| Anti-IL-1 | 5/30—complete response 0% | partial 60% | negative 40% | |
| Anti-CD20 | 4/30—complete response 0% | partial 75% | negative 25% | |
| Jak inhibitors | 5/30—complete response 20% | partial 40% | negative 40% | |
| Genetics | ||
| c.118-1G>C—n (%) | 2 (6.7%) | |
| p.Met41Leu—n (%) | 8 (26.7%) | |
| p.Met41Val—n (%) | 6 (20.0%) | |
| p.Met41Thr—n (%) | 14 (46.7%) | |
| Mutant allele frequency—haematopoietic tissues (mean; range) (%) | 60.5 (14.6–86.3) | |
| Mutant allele frequency—nails (mean; range) (%) | 24.2 (2.7–73.7) | |
allo-HSCT, allogeneic haematopoietic stem cell transplantation; ESR, erythrocyte sedimentation rate; Hb, haemoglobin; IL-1, interleukin 1; IL-6, interleukin 6; IVIG, intravenous immunoglobulins; MAS, macrophage activation syndrome; MCV, mean corpuscular volume; NSAID, non-steroid anti-inflammatory drugs; TNF, tumour necrosis factor; VEXAS, vacuoles, E1-enzyme, X linked, autoinflammatory and somatic syndrome; WBC, white blood cells count.