Demographic and clinical characteristics of patients with VEXAS syndrome and thrombotic events
| Characteristic . | Participants (N = 119) . |
|---|---|
| Demographic characteristics | |
| Male sex, n (%) | 119 (100) |
| Age (y), median (range) | 64.5 (39.0-86.0) |
| Arterial thrombosis risk factors, n (%) | |
| Hypertension | 59 (50) |
| Obesity | 38 (36) |
| Smoking | 29 (27) |
| Hyperlipidemia | 51 (44) |
| Type II diabetes | 29 (25) |
| Atrial fibrillation | 24 (21) |
| Somatic UBA1 mutations, n (%) | (n = 117) |
| p.Met41Thr | 69 (59) |
| p.Met41Val | 27 (23) |
| p.Met41Leu | 16 (14) |
| Splice motif mutation | 5 (4) |
| VEXAS syndrome phenotype, n (%) | |
| Systemic symptoms (fever, fatigue, weight loss) | 95 (80) |
| Skin involvement (rash) | 89 (75) |
| Sweet syndrome | 13 (11) |
| Inflammatory eye disease (episcleritis, uveitis) | 35 (30) |
| Inner ear involvement (hearing loss, tinnitus, vertigo) | 36 (30) |
| Chondritis (ear, nose) | 50 (42) |
| Relapsing polychondritis | 49 (41) |
| Cardiac involvement (myocarditis, pericarditis, pericardial effusion) | 7 (6) |
| Pulmonary involvement (lung infiltrates, pleural effusion) | 60 (50) |
| Musculoskeletal involvement (arthritis, tenosynovitis) | 76 (64) |
| Macrocytic anemia | 107 (90) |
| MDS | 36 (30) |
| Plasma cell dyscrasia | 21 (18) |
| Thrombosis (VTE or arterial) | 58 (49) |
| Venous thrombotic events | |
| VTE, n (%) | 49 (41) |
| DVT, n (% of VTE) | 41 (84) |
| Proximal DVT, n (% of VTE) | 27 (55) |
| Distal DVT, n (% of VTE) | 12 (24) |
| PE, n (% of VTE) | 17 (35) |
| Unprovoked event, n (% of VTE) | 30 (61) |
| Recurrent event, n (% of VTE) | 20 (41) |
| Event while on anticoagulation, n (% of VTE) | 10 (20) |
| Arterial thrombotic events | |
| Any, n (%) | 15 (13) |
| Stroke, n (% of arterial) | 5 (33) |
| MI, n (% of arterial) | 7 (47) |
| Other, n (% of arterial) | 3 (27) |
| Recurrent event, n (% of arterial) | 1 (7) |
| Characteristic . | Participants (N = 119) . |
|---|---|
| Demographic characteristics | |
| Male sex, n (%) | 119 (100) |
| Age (y), median (range) | 64.5 (39.0-86.0) |
| Arterial thrombosis risk factors, n (%) | |
| Hypertension | 59 (50) |
| Obesity | 38 (36) |
| Smoking | 29 (27) |
| Hyperlipidemia | 51 (44) |
| Type II diabetes | 29 (25) |
| Atrial fibrillation | 24 (21) |
| Somatic UBA1 mutations, n (%) | (n = 117) |
| p.Met41Thr | 69 (59) |
| p.Met41Val | 27 (23) |
| p.Met41Leu | 16 (14) |
| Splice motif mutation | 5 (4) |
| VEXAS syndrome phenotype, n (%) | |
| Systemic symptoms (fever, fatigue, weight loss) | 95 (80) |
| Skin involvement (rash) | 89 (75) |
| Sweet syndrome | 13 (11) |
| Inflammatory eye disease (episcleritis, uveitis) | 35 (30) |
| Inner ear involvement (hearing loss, tinnitus, vertigo) | 36 (30) |
| Chondritis (ear, nose) | 50 (42) |
| Relapsing polychondritis | 49 (41) |
| Cardiac involvement (myocarditis, pericarditis, pericardial effusion) | 7 (6) |
| Pulmonary involvement (lung infiltrates, pleural effusion) | 60 (50) |
| Musculoskeletal involvement (arthritis, tenosynovitis) | 76 (64) |
| Macrocytic anemia | 107 (90) |
| MDS | 36 (30) |
| Plasma cell dyscrasia | 21 (18) |
| Thrombosis (VTE or arterial) | 58 (49) |
| Venous thrombotic events | |
| VTE, n (%) | 49 (41) |
| DVT, n (% of VTE) | 41 (84) |
| Proximal DVT, n (% of VTE) | 27 (55) |
| Distal DVT, n (% of VTE) | 12 (24) |
| PE, n (% of VTE) | 17 (35) |
| Unprovoked event, n (% of VTE) | 30 (61) |
| Recurrent event, n (% of VTE) | 20 (41) |
| Event while on anticoagulation, n (% of VTE) | 10 (20) |
| Arterial thrombotic events | |
| Any, n (%) | 15 (13) |
| Stroke, n (% of arterial) | 5 (33) |
| MI, n (% of arterial) | 7 (47) |
| Other, n (% of arterial) | 3 (27) |
| Recurrent event, n (% of arterial) | 1 (7) |
Obesity was defined as body mass index >30. Smoking history was defined as >10 pack-years. Missing data: n = 2 patients had missing UBA1 genotype data; n = 2 had missing hypertension, hyperlipidemia, diabetes, and atrial fibrillation data; n = 14 had missing body mass index; n = 10 had missing smoking data.