Thrombotic risk and protein S levels according to the type of PROS1 gene defect
| . | Splice-site or major structural defect . | Missense defect . | Normal . |
|---|---|---|---|
| n | 27 | 24 | 45 |
| Male, n (%) | 9 (33.3) | 10 (41.6) | 21 (46.6) |
| No. (%) with venous thromboembolism | 13 (48.1) | 9 (37.5) | 3 (6.6) |
| Total thrombotic events | 26 | 15 | 4 |
| Years of follow-up | 1187 | 1194 | 1713 |
| Median age at first thrombosis, y (range) | 41.7 (17.1-69.5) | 34.7 (20.1-58.9) | 24.5 (20.4-35.7) |
| Thromboses per 1000 person-years, median (range) | 21.9 (14.3-32.0) | 12.6 (7.0-20.7) | 2.3 (0.6-6.0) |
| Relative risk for thrombosis (95% CI) | 6.3 (1.8-22.0) | 4.3 (1.2-15.8) | 1.0 |
| Total PS, mean (SD) in IU/mL | 0.496 (0.13) | 0.578 (0.08) | 1.03 (0.18) |
| Free PS, mean (SD) in IU/mL | 0.196 (0.11) | 0.349 (0.13) | 1.07 (0.20) |
| . | Splice-site or major structural defect . | Missense defect . | Normal . |
|---|---|---|---|
| n | 27 | 24 | 45 |
| Male, n (%) | 9 (33.3) | 10 (41.6) | 21 (46.6) |
| No. (%) with venous thromboembolism | 13 (48.1) | 9 (37.5) | 3 (6.6) |
| Total thrombotic events | 26 | 15 | 4 |
| Years of follow-up | 1187 | 1194 | 1713 |
| Median age at first thrombosis, y (range) | 41.7 (17.1-69.5) | 34.7 (20.1-58.9) | 24.5 (20.4-35.7) |
| Thromboses per 1000 person-years, median (range) | 21.9 (14.3-32.0) | 12.6 (7.0-20.7) | 2.3 (0.6-6.0) |
| Relative risk for thrombosis (95% CI) | 6.3 (1.8-22.0) | 4.3 (1.2-15.8) | 1.0 |
| Total PS, mean (SD) in IU/mL | 0.496 (0.13) | 0.578 (0.08) | 1.03 (0.18) |
| Free PS, mean (SD) in IU/mL | 0.196 (0.11) | 0.349 (0.13) | 1.07 (0.20) |
Patients with other thrombophilic defects were excluded. Relative risk is compared with that of relatives with a normal PROS1gene.