Main features of the study population
| . | Afibrinogenemia (n = 30) . | Hypofibrinogenemia (n = 33) . | Dysfibrinogenemia (n = 55) . | Hypodysfibrinogenemia (n = 5) . | All cases (n = 123) . |
|---|---|---|---|---|---|
| Probands, n (%) | 26 (86%) | 23 (67%) | 35 (64%) | 3 (60%) | 87 (71%) |
| Sex (M/F) | 14/16 | 15/18 | 18/37 | 1/4 | 48/75 |
| Age at inclusion, y∗ | 16 (1-47) | 29 (0-65) | 40 (4-85) | 25 (4-29) | 26 (0-85) |
| Age at diagnosis, y∗ | 1 (0-24) | 18 (0-61) | 29 (0-84) | 23 (0-25) | 16 (0-84) |
| Fg:C (mg/dL)∗,† | Undetectable | 75 (30-141) | 51 (21-152) | 45 (41-52) | 49 (0-152) |
| Fg:Ag (mg/dL)∗,† | Undetectable | 88 (19-160) | 277 (184-438) | 1.17 (88-122) | 128 (0-438) |
| Bleeding severity‡ | |||||
| Asymptomatic | - | 11 (34%) | 22 (42%) | 3 (60%) | 36 (30%) |
| Grade 1 | 1 (3%) | 9 (28%) | 8 (15%) | 1 (20%) | 19 (16%) |
| Grade 2 | 7 (23%) | 8 (25%) | 19 (35%) | - | 34 (29%) |
| Grade 3 | 22 (73%) | 4 (13%) | 3 (6%) | 1 (20%) | 30 (25%) |
| Frequency of bleeding‡ | |||||
| No bleeding | - | 11 (34%) | 22 (42%) | 3 (60%) | 36 (30%) |
| Once a time | - | - | 1 (2%) | - | 1 (1%) |
| <1 per year | 3 (10%) | 8 (25%) | 6 (12%) | 1 (20%) | 18 (15%) |
| 1 per year | 10 (33%) | 4 (13%) | 10 (19%) | - | 24 (20%) |
| 2-3 per year | 5 (17%) | 5 (15%) | 1 (2%) | - | 11 (9%) |
| >3per year | 12 (40%) | 4 (13%) | 12 (23%) | 1 (20%) | 29 (25%) |
| Thrombosis, total§ | 3 (11%) | 3 (10%) | 3 (6%) | - | 9 (8%) |
| Venous | 2 (66%) | 1 (33%) | 2 (66%) | 5 (56%) | |
| Arterial | - | 1 (33%) | 1 (33%) | 2 (22%) | |
| Both | 1 (33%) | 1 (33%) | - | 2 (22%) | |
| Treatment, total‖ | 30 (100%) | 20 (65%) | 32 (63%) | 4 (100%) | 86 (70%) |
| On-demand | 18 (60%) | 19 (95%) | 26 (81%) | 4 (100%) | 67 (78%) |
| Prophylaxis | 7 (23%) | - | 6 (19%) | - | 13 (15%) |
| Both | 5 (17%) | 1 (5%) | - | - | 6 (7%) |
| Bleeding treatment | |||||
| FC | 16 (53%) | 13 (65%) | 14 (44%) | 4 (100%) | 47 (55%) |
| Cryo | 13 (43%) | - | - | - | 13 (15%) |
| FFP | 10 (33%) | 2 (10%) | 1 (3%) | - | 13 (15%) |
| Antifibrinolytic | 7 (23%) | 6 (30%) | 16 (50%) | 2 (50%) | 31 (36%) |
| Blood | 5 (17%) | 1 (5%) | - | - | 6 (7%) |
| Vitamin K | 1 (3%) | - | - | - | 1 (1%) |
| Other | - | 1 (5%) | 7 (22%) | - | 8 (9%) |
| Reason for diagnosis | |||||
| Presented with bleeding, n (%) | 30 (100) | 20 (60%) | 5 (11) | 2 (40%) | 57 (46%) |
| Screen for kinship with proband, n (%) | 1 (3%) | 10 (30%) | 17 (31%) | 3 (60%) | 31 (25%) |
| Tested before surgery, n (%) | - | 3 (9%) | 12 (24%) | 1 (20%) | 16 (13%) |
| Tested for other reasons, n (%) | 3 (12%) | 10 (31%) | 9 (18%) | 1 (20%) | 23 (19%) |
| Unknown reasons for testing, n (%) | 2 (7%) | 1 (3%) | 4 (7%) | - | 7 (6%) |
| . | Afibrinogenemia (n = 30) . | Hypofibrinogenemia (n = 33) . | Dysfibrinogenemia (n = 55) . | Hypodysfibrinogenemia (n = 5) . | All cases (n = 123) . |
|---|---|---|---|---|---|
| Probands, n (%) | 26 (86%) | 23 (67%) | 35 (64%) | 3 (60%) | 87 (71%) |
| Sex (M/F) | 14/16 | 15/18 | 18/37 | 1/4 | 48/75 |
| Age at inclusion, y∗ | 16 (1-47) | 29 (0-65) | 40 (4-85) | 25 (4-29) | 26 (0-85) |
| Age at diagnosis, y∗ | 1 (0-24) | 18 (0-61) | 29 (0-84) | 23 (0-25) | 16 (0-84) |
| Fg:C (mg/dL)∗,† | Undetectable | 75 (30-141) | 51 (21-152) | 45 (41-52) | 49 (0-152) |
| Fg:Ag (mg/dL)∗,† | Undetectable | 88 (19-160) | 277 (184-438) | 1.17 (88-122) | 128 (0-438) |
| Bleeding severity‡ | |||||
| Asymptomatic | - | 11 (34%) | 22 (42%) | 3 (60%) | 36 (30%) |
| Grade 1 | 1 (3%) | 9 (28%) | 8 (15%) | 1 (20%) | 19 (16%) |
| Grade 2 | 7 (23%) | 8 (25%) | 19 (35%) | - | 34 (29%) |
| Grade 3 | 22 (73%) | 4 (13%) | 3 (6%) | 1 (20%) | 30 (25%) |
| Frequency of bleeding‡ | |||||
| No bleeding | - | 11 (34%) | 22 (42%) | 3 (60%) | 36 (30%) |
| Once a time | - | - | 1 (2%) | - | 1 (1%) |
| <1 per year | 3 (10%) | 8 (25%) | 6 (12%) | 1 (20%) | 18 (15%) |
| 1 per year | 10 (33%) | 4 (13%) | 10 (19%) | - | 24 (20%) |
| 2-3 per year | 5 (17%) | 5 (15%) | 1 (2%) | - | 11 (9%) |
| >3per year | 12 (40%) | 4 (13%) | 12 (23%) | 1 (20%) | 29 (25%) |
| Thrombosis, total§ | 3 (11%) | 3 (10%) | 3 (6%) | - | 9 (8%) |
| Venous | 2 (66%) | 1 (33%) | 2 (66%) | 5 (56%) | |
| Arterial | - | 1 (33%) | 1 (33%) | 2 (22%) | |
| Both | 1 (33%) | 1 (33%) | - | 2 (22%) | |
| Treatment, total‖ | 30 (100%) | 20 (65%) | 32 (63%) | 4 (100%) | 86 (70%) |
| On-demand | 18 (60%) | 19 (95%) | 26 (81%) | 4 (100%) | 67 (78%) |
| Prophylaxis | 7 (23%) | - | 6 (19%) | - | 13 (15%) |
| Both | 5 (17%) | 1 (5%) | - | - | 6 (7%) |
| Bleeding treatment | |||||
| FC | 16 (53%) | 13 (65%) | 14 (44%) | 4 (100%) | 47 (55%) |
| Cryo | 13 (43%) | - | - | - | 13 (15%) |
| FFP | 10 (33%) | 2 (10%) | 1 (3%) | - | 13 (15%) |
| Antifibrinolytic | 7 (23%) | 6 (30%) | 16 (50%) | 2 (50%) | 31 (36%) |
| Blood | 5 (17%) | 1 (5%) | - | - | 6 (7%) |
| Vitamin K | 1 (3%) | - | - | - | 1 (1%) |
| Other | - | 1 (5%) | 7 (22%) | - | 8 (9%) |
| Reason for diagnosis | |||||
| Presented with bleeding, n (%) | 30 (100) | 20 (60%) | 5 (11) | 2 (40%) | 57 (46%) |
| Screen for kinship with proband, n (%) | 1 (3%) | 10 (30%) | 17 (31%) | 3 (60%) | 31 (25%) |
| Tested before surgery, n (%) | - | 3 (9%) | 12 (24%) | 1 (20%) | 16 (13%) |
| Tested for other reasons, n (%) | 3 (12%) | 10 (31%) | 9 (18%) | 1 (20%) | 23 (19%) |
| Unknown reasons for testing, n (%) | 2 (7%) | 1 (3%) | 4 (7%) | - | 7 (6%) |
FC, fibrinogen concentrate; FFP, fresh frozen plasma.
Patients who received both on-demand and prophylaxis treatments during their lives.
The laboratory results and ages are reported as median (range).
Normal range of plasma fibrinogen level is 150-350 mg/dL.
The data regarding bleeding episodes were not available for 4 cases (1 hypofibrinogenemia and 3 dysfibrinogenemia).
There are 11 missing data regarding thrombosis (2 afibrinogenemia, 3 hypofibrinogenemia, 5 dysfibrinogenemia, and 1 hypodysfibrinogenemia).
There are 7 missing data for treatment (1 hypofibrinogenemia, 5 dysfibrinogenemia, and 1 hypodysfibrinogenemia).