Clinical data
| Variable . | All patients N = 204 . | Adults (aged ≥17 y) n = 119 . | Children (aged 8-15 y) n = 62 . | Children (aged 4-7 y) n = 23 . |
|---|---|---|---|---|
| ISTH BAT score, median (Q1; Q3) | 14 (8; 21) | 15 (9; 23) | 14 (9.2; 19) | 9 (5; 16.5) |
| Frequency of bleeding, no. (%) | ||||
| Several times per day | 1 (0.5) | 1 (0.8) | 0 (0) | 0 (0) |
| Several times per week | 8 (3.9) | 7 (5.9) | 1 (1.6) | 0 (0) |
| Several times per month | 32 (15.7) | 12 (10.1) | 15 (24.2) | 5 (21.7) |
| Several times per year | 125 (61.3) | 78 (65.5) | 36 (58.1) | 11 (47.8) |
| Other* | 27 (13.3) | 13 (10.9) | 9 (14.5) | 5 (21.7) |
| None | 11 (5.4) | 8 (6.7) | 1 (1.6) | 2 (8.7) |
| Bleeding treatment, no. (%)† | ||||
| Fibrinogen concentrate | 149 (33.1) | 98 (35.6) | 40 (29.2) | 11 (28.9) |
| Frozen fresh plasma | 131 (29.1) | 68 (24.7) | 48 (35) | 15 (39.5) |
| Cryoprecipitate | 113 (25.1) | 74 (26.9) | 28 (20.4) | 11 (28.9) |
| Red blood cells | 42 (9.3) | 26 (9.5) | 16 (11.7) | 0 (0) |
| Tranexamic acid | 15 (3.4) | 9 (3.3) | 5 (3.7) | 1 (2.7) |
| Current fibrinogen treatment, no. (%) | ||||
| On-demand | 132 (64.7) | 78 (65.5) | 41 (66.1) | 13 (56.6) |
| Prophylactic | 72 (35.3) | 41 (34.5) | 21 (33.9) | 10 (43.5) |
| Frequency of prophylaxis, no. (%)‡ | ||||
| <1 injection/wk | 34 (48.6) | 17 (43.9) | 13 (61.9) | 4 (40) |
| ≥1 injection/wk | 37 (51.4) | 23 (56.1) | 8 (38.1) | 6 (60) |
| Prophylaxis administration, no. (%)‡ | ||||
| At home | 33 (45.2) | 23 (56.1) | 9 (42.9) | 6 (60) |
| At hospital | 38 (52.8) | 17 (43.9) | 12 (57.1) | 4 (40) |
| Thrombotic phenotype, no. (%) | ||||
| Total | 37 (18.1) | 31 (26.1) | 4 (6.5) | 2 (8.7) |
| Venous§ | 16 (43.3) | 10 (32.3) | 4 (100) | 2 (100) |
| Arterialǁ | 11 (29.7) | 11 (35.4) | 0 (0) | 0 (0) |
| Both | 10 (27) | 10 (32.3) | 0 (0) | 0 (0) |
| Spontaneous spleen rupture, no. (%) | 11 (5.4) | 8 (6.7) | 3 (4.8) | 0 (0) |
| Bone cysts, no. (%) | ||||
| Yes | 36 (17.6) | 15 (12.6) | 17 (27.4) | 4 (17.4) |
| Unknown | 3 (1.47) | 0 (0) | 1 (1.6) | 2 (8.7) |
| Variable . | All patients N = 204 . | Adults (aged ≥17 y) n = 119 . | Children (aged 8-15 y) n = 62 . | Children (aged 4-7 y) n = 23 . |
|---|---|---|---|---|
| ISTH BAT score, median (Q1; Q3) | 14 (8; 21) | 15 (9; 23) | 14 (9.2; 19) | 9 (5; 16.5) |
| Frequency of bleeding, no. (%) | ||||
| Several times per day | 1 (0.5) | 1 (0.8) | 0 (0) | 0 (0) |
| Several times per week | 8 (3.9) | 7 (5.9) | 1 (1.6) | 0 (0) |
| Several times per month | 32 (15.7) | 12 (10.1) | 15 (24.2) | 5 (21.7) |
| Several times per year | 125 (61.3) | 78 (65.5) | 36 (58.1) | 11 (47.8) |
| Other* | 27 (13.3) | 13 (10.9) | 9 (14.5) | 5 (21.7) |
| None | 11 (5.4) | 8 (6.7) | 1 (1.6) | 2 (8.7) |
| Bleeding treatment, no. (%)† | ||||
| Fibrinogen concentrate | 149 (33.1) | 98 (35.6) | 40 (29.2) | 11 (28.9) |
| Frozen fresh plasma | 131 (29.1) | 68 (24.7) | 48 (35) | 15 (39.5) |
| Cryoprecipitate | 113 (25.1) | 74 (26.9) | 28 (20.4) | 11 (28.9) |
| Red blood cells | 42 (9.3) | 26 (9.5) | 16 (11.7) | 0 (0) |
| Tranexamic acid | 15 (3.4) | 9 (3.3) | 5 (3.7) | 1 (2.7) |
| Current fibrinogen treatment, no. (%) | ||||
| On-demand | 132 (64.7) | 78 (65.5) | 41 (66.1) | 13 (56.6) |
| Prophylactic | 72 (35.3) | 41 (34.5) | 21 (33.9) | 10 (43.5) |
| Frequency of prophylaxis, no. (%)‡ | ||||
| <1 injection/wk | 34 (48.6) | 17 (43.9) | 13 (61.9) | 4 (40) |
| ≥1 injection/wk | 37 (51.4) | 23 (56.1) | 8 (38.1) | 6 (60) |
| Prophylaxis administration, no. (%)‡ | ||||
| At home | 33 (45.2) | 23 (56.1) | 9 (42.9) | 6 (60) |
| At hospital | 38 (52.8) | 17 (43.9) | 12 (57.1) | 4 (40) |
| Thrombotic phenotype, no. (%) | ||||
| Total | 37 (18.1) | 31 (26.1) | 4 (6.5) | 2 (8.7) |
| Venous§ | 16 (43.3) | 10 (32.3) | 4 (100) | 2 (100) |
| Arterialǁ | 11 (29.7) | 11 (35.4) | 0 (0) | 0 (0) |
| Both | 10 (27) | 10 (32.3) | 0 (0) | 0 (0) |
| Spontaneous spleen rupture, no. (%) | 11 (5.4) | 8 (6.7) | 3 (4.8) | 0 (0) |
| Bone cysts, no. (%) | ||||
| Yes | 36 (17.6) | 15 (12.6) | 17 (27.4) | 4 (17.4) |
| Unknown | 3 (1.47) | 0 (0) | 1 (1.6) | 2 (8.7) |
Q, quartile.
Less than several times per year or variable depending on physical activities.
Several products could be received by each patient.
Data lacking for 1 adult patient.
Five splanchnic thromboses, 4 deep venous thromboses, 3 catheter-related thromboses, 3 pulmonary embolisms, 1 vena cava thrombosis, 1 renal thrombosis, and 1 cerebral (data lacking for 8 patients).
Seven acute limb ischemia, 6 strokes, 2 myocardial infarct, 2 splenic thrombosis, 1 aortic thrombosis, and 1 renal thrombosis (data lacking for 2 patients).