Genotypic and phenotypic features of 6 VWD subjects from 2 unrelated families
| Family . | Members . | VWF mutation . | PFA Epi/ADP (s) . | FVIII:C (IU/dL) . | VWF:Ag (IU/dL) . | VWF:RCo (IU/dL) . | VWF:CB (IU/dL) . | Response to DDAVP . | BS . |
|---|---|---|---|---|---|---|---|---|---|
| F1 | Propositus I-1 | p.L1696R | 300/>300 | 19 | 16 | 16 | 7 | Partial | 2 |
| F1 | Daughter II-1 | p.L1696R | 300/>300 | 32 | 25 | 25 | 12 | Partial | 2 |
| F1 | Son II-2 | p.L1696R | 300/>300 | 43 | 23 | 18 | 12 | Partial | 0 |
| F2 | Propositus I-1 | p.P1824H | 300/>300 | 48 | 12 | 10 | 6 | Not tested | 6 |
| F2 | Sister I-2 | p.P1824H | 300/>300 | 29 | 16 | 10 | 8 | None | 5 |
| F2 | Sister I-3 | p.P1824H | >270/>280 | 26 | 13 | 12 | 3 | None | 9 |
| Family . | Members . | VWF mutation . | PFA Epi/ADP (s) . | FVIII:C (IU/dL) . | VWF:Ag (IU/dL) . | VWF:RCo (IU/dL) . | VWF:CB (IU/dL) . | Response to DDAVP . | BS . |
|---|---|---|---|---|---|---|---|---|---|
| F1 | Propositus I-1 | p.L1696R | 300/>300 | 19 | 16 | 16 | 7 | Partial | 2 |
| F1 | Daughter II-1 | p.L1696R | 300/>300 | 32 | 25 | 25 | 12 | Partial | 2 |
| F1 | Son II-2 | p.L1696R | 300/>300 | 43 | 23 | 18 | 12 | Partial | 0 |
| F2 | Propositus I-1 | p.P1824H | 300/>300 | 48 | 12 | 10 | 6 | Not tested | 6 |
| F2 | Sister I-2 | p.P1824H | 300/>300 | 29 | 16 | 10 | 8 | None | 5 |
| F2 | Sister I-3 | p.P1824H | >270/>280 | 26 | 13 | 12 | 3 | None | 9 |
FVIII:C, FVIII coagulant activity.