Patient VWD phenotypes
| Mutation . | Patient ID (sex) . | Bleeding Score . | VWF:Ag, IU/mL . | VWF:RCo, IU/mL . | FVIII:C, IU/mL . | VWF:collagen binding, IU/mL . | VWF:FVIII binding, IU/mL . | Multimers . |
|---|---|---|---|---|---|---|---|---|
| c.3538G>A | V69 (F) | 17 | 0.13 | 0.12 | 0.15 | 0.09 | 0.07 | Lack HMWM |
| V70 (M) | 11 | 0.27 | 0.17 | 0.45 | 0.13 | 0.20 | Lack HMWM | |
| c.5842+1G>Cc.3939G>A | T151 (M) | 29 | 0.02 | 0.04 | 0.01 | 0.04 | 0.03 | None |
| c.5842+1G>C | T152 (F) | 8 | 0.49 | 0.42 | 1.16 | 0.61 | 0.911 | Normal |
| c.6599-20 A>T | V447 (F) | 11 | 0.41 | 0.38 | 0.51 | 0.55 | 0.71 | Normal |
| V449 (M) | 4 | 0.44 | 0.44 | 0.75 | 0.50 | 0.70 | Normal |
| Mutation . | Patient ID (sex) . | Bleeding Score . | VWF:Ag, IU/mL . | VWF:RCo, IU/mL . | FVIII:C, IU/mL . | VWF:collagen binding, IU/mL . | VWF:FVIII binding, IU/mL . | Multimers . |
|---|---|---|---|---|---|---|---|---|
| c.3538G>A | V69 (F) | 17 | 0.13 | 0.12 | 0.15 | 0.09 | 0.07 | Lack HMWM |
| V70 (M) | 11 | 0.27 | 0.17 | 0.45 | 0.13 | 0.20 | Lack HMWM | |
| c.5842+1G>Cc.3939G>A | T151 (M) | 29 | 0.02 | 0.04 | 0.01 | 0.04 | 0.03 | None |
| c.5842+1G>C | T152 (F) | 8 | 0.49 | 0.42 | 1.16 | 0.61 | 0.911 | Normal |
| c.6599-20 A>T | V447 (F) | 11 | 0.41 | 0.38 | 0.51 | 0.55 | 0.71 | Normal |
| V449 (M) | 4 | 0.44 | 0.44 | 0.75 | 0.50 | 0.70 | Normal |
Average VWF:Ag, VWF:RCo, and FVIII:C from all available patient plasma levels. BS ≥ 4 indicate symptomatic abnormal bleeding. The normal ranges for VWF:Ag, VWF:RCo, FVIII:C, collagen binding, and FVIII binding are between 0.50 and 1.50 IU/mL.
F, female; ID, identification; M, male.