Demographic parameters and VWF measurements of the cohort of VWD 2B patients enrolled in the study and classified by genotype
| Mutation . | No. of cases (no. of families) . | Age, y . | Sex, F-M . | Bleeding severity score . | BT, min . | RIPA, mg/mL . | VWF:RCo, U/dL . | VWF:RCo/Ag, ratio . | FVIII, U/dL . | Multimeric pattern . |
|---|---|---|---|---|---|---|---|---|---|---|
| P1266Q | 4 (2) | 34 (19-52) | 1-3 | 0.5 (0-2) | NT | 0.6 (0.3-0.6) | 32 (21-101) | 0.7 (0.7-0.8) | 58 (39-96) | A |
| P1266L | 6 (2) | 47 (11-84) | 3-3 | 2 (0-6) | 5 (3-9) | 0.5 (0.4-0.6) | 60 (43-105) | 0.9 (0.7-1.1) | 78 (56-125) | A |
| H1268D | 1 (1) | 36 | 1-0 | 7 | 5.5 | 0.4 | 24 | 0.5 | 62 | B |
| R1306W | 15 (9) | 43 (14-77) | 9-6 | 8 (3-24) | 19 (6-35) | 0.7 (0.5-0.8) | 12 (7-36) | 0.5 (0.25-0.8) | 36 (27-75) | C |
| R1308C | 13 (11) | 35 (26-87) | 10-3 | 9 (1-18) | 15 (10-27) | 0.7 (0.5-0.8) | 19 (12-39) | 0.5 (0.18-0.7) | 43 (24-72) | D |
| R1308L | 6 (1) | 41 (18-50) | 4-2 | 3 (0-16) | 7 (5-8) | 0.5 (0.3-0.6) | 38 (23-49) | 0.8 (0.65-1.0) | 47 (35-57) | A |
| I1309V | 9 (2) | 55 (10-60) | 4-5 | 4 (2-11) | 9 (5-19) | 0.4 (0.3-0.7) | 65 (23-125) | 0.7 (0.6-1.1) | 91 (57-140) | B |
| V1316M | 4 (4) | 32 (22-62) | 2-2 | 13 (12-16) | 31 (28-35) | 0.5 (0.5-0.6) | 7 (6-20) | 0.3 (0.2-0.7) | 57 | D |
| P1337L | 2 (1) | 27 (22-31) | 2-0 | 3 (2-3) | 8 (4-11) | 0.6 (0.5-0.7) | 70 (35-104) | 1.0 (0.9-1.1) | 75 (74-76) | B |
| R1341Q | 4 (3) | 48 (41-75) | 3-1 | 5 (4-7) | 8 (6-14) | 0.5 (0.4-0.7) | 36 (24-59) | 0.6 (0.4-0.7) | 64 (39-80) | C |
| R1341W | 3 (2) | 36 (6-62) | 1-2 | 7 (0-9) | 7 (4-9) | 0.6 (0.4-0.7) | 54 (42-58) | 0.6 (0.6-1.0) | 73 (59-86) | C |
| Total | 67/38 | 42 (6-87) | 40-27 | 5 (0-24) | 10 (3-35) | 0.6 (0.3-0.8) | 32 (6-125) | 0.7 (0.18-1.1) | 57 (24-140) | A-D |
| Mutation . | No. of cases (no. of families) . | Age, y . | Sex, F-M . | Bleeding severity score . | BT, min . | RIPA, mg/mL . | VWF:RCo, U/dL . | VWF:RCo/Ag, ratio . | FVIII, U/dL . | Multimeric pattern . |
|---|---|---|---|---|---|---|---|---|---|---|
| P1266Q | 4 (2) | 34 (19-52) | 1-3 | 0.5 (0-2) | NT | 0.6 (0.3-0.6) | 32 (21-101) | 0.7 (0.7-0.8) | 58 (39-96) | A |
| P1266L | 6 (2) | 47 (11-84) | 3-3 | 2 (0-6) | 5 (3-9) | 0.5 (0.4-0.6) | 60 (43-105) | 0.9 (0.7-1.1) | 78 (56-125) | A |
| H1268D | 1 (1) | 36 | 1-0 | 7 | 5.5 | 0.4 | 24 | 0.5 | 62 | B |
| R1306W | 15 (9) | 43 (14-77) | 9-6 | 8 (3-24) | 19 (6-35) | 0.7 (0.5-0.8) | 12 (7-36) | 0.5 (0.25-0.8) | 36 (27-75) | C |
| R1308C | 13 (11) | 35 (26-87) | 10-3 | 9 (1-18) | 15 (10-27) | 0.7 (0.5-0.8) | 19 (12-39) | 0.5 (0.18-0.7) | 43 (24-72) | D |
| R1308L | 6 (1) | 41 (18-50) | 4-2 | 3 (0-16) | 7 (5-8) | 0.5 (0.3-0.6) | 38 (23-49) | 0.8 (0.65-1.0) | 47 (35-57) | A |
| I1309V | 9 (2) | 55 (10-60) | 4-5 | 4 (2-11) | 9 (5-19) | 0.4 (0.3-0.7) | 65 (23-125) | 0.7 (0.6-1.1) | 91 (57-140) | B |
| V1316M | 4 (4) | 32 (22-62) | 2-2 | 13 (12-16) | 31 (28-35) | 0.5 (0.5-0.6) | 7 (6-20) | 0.3 (0.2-0.7) | 57 | D |
| P1337L | 2 (1) | 27 (22-31) | 2-0 | 3 (2-3) | 8 (4-11) | 0.6 (0.5-0.7) | 70 (35-104) | 1.0 (0.9-1.1) | 75 (74-76) | B |
| R1341Q | 4 (3) | 48 (41-75) | 3-1 | 5 (4-7) | 8 (6-14) | 0.5 (0.4-0.7) | 36 (24-59) | 0.6 (0.4-0.7) | 64 (39-80) | C |
| R1341W | 3 (2) | 36 (6-62) | 1-2 | 7 (0-9) | 7 (4-9) | 0.6 (0.4-0.7) | 54 (42-58) | 0.6 (0.6-1.0) | 73 (59-86) | C |
| Total | 67/38 | 42 (6-87) | 40-27 | 5 (0-24) | 10 (3-35) | 0.6 (0.3-0.8) | 32 (6-125) | 0.7 (0.18-1.1) | 57 (24-140) | A-D |
Continuous variables are expressed as median (range). NT indicates not tested; and BT, bleeding time.