Platelet counts at baseline and after stress situations, platelet morphology, and VWF–GPIb-α /BC (nanobody) of the 67 VWD2B patients classified by genotype
| Mutation . | No. of cases (no. of families) . | Platelet count at baseline (×103/μL) . | Trough platelet counts after stress . | MPV, fl . | Platelet morphology . | VWF–GPIb-α:BC . | |||
|---|---|---|---|---|---|---|---|---|---|
| Pregnancy, n . | Infections, n . | Surgery, n . | DDAVP,* n . | ||||||
| P1266Q | 4 (2) | 302 (269-353) | 199 (1) | 8 (8-9) | A | 0.7 (0.6-0.8) | |||
| P1266L | 6 (2) | 238 (172-302) | 185 (1) | 199.0 (2) | 8 (8-9) | A | 0.5 (0.5-1.1) | ||
| H1268D | 1 (1) | 223 | 117 (1) | 123 (1) | 10 | B | 2.2 | ||
| R1306W | 15 (9) | 165 (54-214) | 56 (4) | 85 (2) | 73 (2) | 10 (4-11) | B | 3.7 (1.9-5.5) | |
| R1308C | 13 (11) | 165 (93-279 | 64 (1) | 84 (2) | 25 (2) | 11 (9-13) | D | 2.6 (2-3) | |
| R1308L | 6 (1) | 248 (193-402) | 194 (2) | 204 (1) | 208.0 (1) | 9 (8-10) | A | 0.4 (0.3-0.7) | |
| I1309V | 9 (2) | 111 (66-222) | 76 (1) | 41 (2) | 10 (9-13) | C | 2.4 (2.1-3.4) | ||
| V1316M | 4 (4) | 97 (19-149) | 21 (1) | 27 (2) | 10 (10-10) | C | 4.3 (4.1-4.4) | ||
| P1337L | 2 (1) | 247 (221-273) | 141 (1) | 9 (8-10) | A | 1.2 (1.1-1.3) | |||
| R1341Q | 4 (3) | 199 (174-229) | 105 (2) | 73 (1) | 10 (8-11) | B | 3.0 | ||
| R1341W | 3 (2) | 185 (171-319) | 131 (1) | 9 (8-10) | C | 3.3 | |||
| Total | 67 (38) | 184 (19-402) | 56 (56-199) | 85 (21-194) | 73 (25-204) | 202 (164-208) | 10 (8-13) | A to D | 2.2 (0.3-5.5) |
| Mutation . | No. of cases (no. of families) . | Platelet count at baseline (×103/μL) . | Trough platelet counts after stress . | MPV, fl . | Platelet morphology . | VWF–GPIb-α:BC . | |||
|---|---|---|---|---|---|---|---|---|---|
| Pregnancy, n . | Infections, n . | Surgery, n . | DDAVP,* n . | ||||||
| P1266Q | 4 (2) | 302 (269-353) | 199 (1) | 8 (8-9) | A | 0.7 (0.6-0.8) | |||
| P1266L | 6 (2) | 238 (172-302) | 185 (1) | 199.0 (2) | 8 (8-9) | A | 0.5 (0.5-1.1) | ||
| H1268D | 1 (1) | 223 | 117 (1) | 123 (1) | 10 | B | 2.2 | ||
| R1306W | 15 (9) | 165 (54-214) | 56 (4) | 85 (2) | 73 (2) | 10 (4-11) | B | 3.7 (1.9-5.5) | |
| R1308C | 13 (11) | 165 (93-279 | 64 (1) | 84 (2) | 25 (2) | 11 (9-13) | D | 2.6 (2-3) | |
| R1308L | 6 (1) | 248 (193-402) | 194 (2) | 204 (1) | 208.0 (1) | 9 (8-10) | A | 0.4 (0.3-0.7) | |
| I1309V | 9 (2) | 111 (66-222) | 76 (1) | 41 (2) | 10 (9-13) | C | 2.4 (2.1-3.4) | ||
| V1316M | 4 (4) | 97 (19-149) | 21 (1) | 27 (2) | 10 (10-10) | C | 4.3 (4.1-4.4) | ||
| P1337L | 2 (1) | 247 (221-273) | 141 (1) | 9 (8-10) | A | 1.2 (1.1-1.3) | |||
| R1341Q | 4 (3) | 199 (174-229) | 105 (2) | 73 (1) | 10 (8-11) | B | 3.0 | ||
| R1341W | 3 (2) | 185 (171-319) | 131 (1) | 9 (8-10) | C | 3.3 | |||
| Total | 67 (38) | 184 (19-402) | 56 (56-199) | 85 (21-194) | 73 (25-204) | 202 (164-208) | 10 (8-13) | A to D | 2.2 (0.3-5.5) |
Continuous variables are expressed as median (range). MPV indicates mean platelet volume.
DDAVP was used only in 3 patients with mutations P1266L, previously diagnosed as type 1 Malmö/New York10 and R1308L.32