Data retrieval of probands and their enrolled relatives
| Original study . | Pooled study . | |||||||
|---|---|---|---|---|---|---|---|---|
| Antithrombin deficient, no. . | Protein C deficient, no. . | Protein S deficient, no. . | FV Leiden, no. . | Prothrombin 20210G>A, no. . | High FVIII, no. . | Hyperhomocysteinemia, no. . | Total, no. . | |
| Antithrombin/protein C/protein S deficiency, probands, no. | 12 | 40 | 72 | 0 | 0 | 0 | 0 | 124 |
| Prothrombin 20210G>A/high factor VIII/hyperhomocysteinemia, probands, no. | 0 | 2 | 1 | 69 | 138 | 173 | 163 | 546 |
| Factor V Leiden, probands, no. | 0 | 4 | 1 | 202 | 0 | 0 | 0 | 207 |
| Total probands, no. | 12 | 46 | 74 | 271 | 138 | 173 | 163 | 877 |
| Relatives enrolled, no. | 97 | 154 | 332* | 557 | 346 | 576 | 417 | 2479 |
| Original study . | Pooled study . | |||||||
|---|---|---|---|---|---|---|---|---|
| Antithrombin deficient, no. . | Protein C deficient, no. . | Protein S deficient, no. . | FV Leiden, no. . | Prothrombin 20210G>A, no. . | High FVIII, no. . | Hyperhomocysteinemia, no. . | Total, no. . | |
| Antithrombin/protein C/protein S deficiency, probands, no. | 12 | 40 | 72 | 0 | 0 | 0 | 0 | 124 |
| Prothrombin 20210G>A/high factor VIII/hyperhomocysteinemia, probands, no. | 0 | 2 | 1 | 69 | 138 | 173 | 163 | 546 |
| Factor V Leiden, probands, no. | 0 | 4 | 1 | 202 | 0 | 0 | 0 | 207 |
| Total probands, no. | 12 | 46 | 74 | 271 | 138 | 173 | 163 | 877 |
| Relatives enrolled, no. | 97 | 154 | 332* | 557 | 346 | 576 | 417 | 2479 |
Probands were classified according to their index defect. In case of multiple defects, the index defect was chosen in the following order: antithrombin deficiency, protein C deficiency, protein S deficiency, FV Leiden, prothrombin 20210G>A, high factor VIII levels, hyperhomocysteinemia. For example, a proband with protein C deficiency and high factor VIII levels, and his first-degree relatives were classified as a protein C–deficient family and not as a family with high factor VIII levels.
One-hundred forty-nine protein S type I–deficient relatives, 183 protein S type III–deficient relatives. Protein S type III deficiency was not considered a risk factor in further analyses.