Table 1.
VWD patient phenotypes
| Patient | VWD diagnosis | Age | Sex | VWF:Ag IU/dL | VWF:RCo IU/dL | FVIII:C IU/dL | VWF:Ag post-DDAVP IU/dL | VWF:RCo post-DDAVP IU/dL | FVIII:C post-DDAVP IU/dL | VWF gene | Blood group |
|---|---|---|---|---|---|---|---|---|---|---|---|
| VWD-10 | 1 | 58 | M | 7 | 8 | 18 | 7 | 10 | 18 | c.2438dupG and c.2281+4A>G (intronic) | B |
| VWD-8 | 1 | 61 | F | 15 | 14 | 68 | 28 | 47 | 283 | D75-G178 del | O |
| VWD-1 | 1 | 41 | F | 13 | 12 | 23 | 39 | N.A. | 94 | I1343V, V1360A, F1369I, S1378F, R1379C | O |
| VWD-12 | 1 | 43 | F | 22 | 15 | 59 | 90 | N.A. | 300 | Y1584C | O |
| VWD-13 | 2A | 28 | M | 38 | 14 | 50 | 142 | 81 | 245 | R1597W | O |
| VWD-2 | 2M | 49 | F | 26 | 9 | 48 | 84 | 36 | 150 | I1416T | A |
| VWD-3 | 2M | 27 | M | 26 | 6 | 42 | 101 | 48 | 83 | I1416T | N.A. |
| VWD-17 | 2M | 73 | M | 14 | <5 | 40 | N.A. | N.A. | N.A. | R1315C | B |
The parameters defining the clinical phenotypes of the patients studied are displayed. Patients’ plasma VWF:Ag and VWF:RCo at baseline and pre- and post-DDAVP treatment are shown. Sequence changes in the VWF gene of patients are indicated with the predicted amino acid change or, if intronic, the nucleotide change. Normal range for VWF:Ag and VWF:RCo = 50 to 150 IU/dL and for FVIII:C = 45 to 150 IU/dL.
N.A., not available.