Characteristics of index cases and relatives according to whether index case had provoked or unprovoked VTE
| Characteristics . | Total . | Index case had provoked VTE . | Index case had unprovoked VTE . | P‡ . | ||||
|---|---|---|---|---|---|---|---|---|
| Subtotal . | FVL or PGM . | No FVL and no PGM . | Subtotal . | FVL or PGM . | No FVL and no PGM . | |||
| Index cases, n | 507 | 138 | 20 | 118 | 369 | 105 | 264 | |
| Female, n (%) | 248 (49) | 63 (46) | 11 (17) | 52 (82) | 185 (50) | 50 (48) | 135 (51) | .37 |
| Age at diagnosis, mean (SD) | 58.8 (17.7) | 64.0 (16.2) | 61.0 (17.9) | 64.5 (15.9) | 56.8 (17.9) | 53.0 (18.1) | 58.3 (17.6) | <.001 |
| Number of FDR per index case, mean (SD) | 6.9 (3.0) | 7.4 (3.0) | 7.3 (2.9) | 7.6 (3.1) | 6.7 (3.1) | 6.5 (2.5) | 6.8 (3·3) | .04 |
| Number of included FDR per index case, mean (SD) | 5.6 (2.9) | 6.7 (2.9) | 6.7 (2.8) | 6.6 (3.5) | 4.8 (2.8) | 4.8 (2.6) | 4.8 (2.8) | .001 |
| Pulmonary embolism, n (%)* | 278 (55) | 86 (62) | 11 (55) | 75 (64) | 192 (52) | 51 (49) | 141 (53) | .04 |
| Provoking risk factor, n | — | 138 | 20 | 118 | — | — | — | |
| Surgery, n (%) | — | 39 (28) | 5 (25) | 34 (29) | — | — | — | |
| Trauma, n (%) | — | 13 (9) | 4 20) | 9 (7) | — | — | — | |
| Immobilization, n (%) | — | 44 (32) | 3 (15) | 41 (35) | — | — | — | |
| Cancer, n (%) | — | 42 (30) | 8 (40) | 34 (29) | — | — | — | |
| Thrombophilia, n (%) | 125 (25) | 20 (15) | 20 | — | 105 (29) | 105 | — | .001 |
| FVL heterozygote, n (%) | 80 (64) | — | 12 (60) | — | — | 68 (65) | — | |
| FVL homozygote, n (%) | 4 (3) | — | 1 (5) | — | — | 3 (3) | — | |
| PGM heterozygote, n (%) | 35 (28) | — | 7 (35) | — | — | 28 (27) | — | |
| PGM homozygote, n (%) | 1 (1) | — | — | — | — | 1 (1) | — | |
| FVL heterozygote and PGM heterozygote, n (%) | 4 (3) | — | — | — | — | 4 (4) | — | |
| FVL homozygote and PGM heterozygote, n (%) | 1 (1) | — | — | — | — | 1 (1) | — | |
| FDR, n | 2617 | 865 | 123 | 742 | 1752 | 502 | 1250 | |
| Female, n (%) | 1323 (51) | 442 (51) | 59 (48) | 383 (52) | 881 (50) | 256 (51) | 625 (50) | .7 |
| Alive, n (%) | 1819 (70) | 591 (68) | 86 (70) | 505 (68) | 1228 (70) | 372 (74) | 856 (68) | .36 |
| Age, mean (SD)† | 55.6 (18.2) | 57.5 (18.3) | 56.0 (18.5) | 57.7 (18.3) | 54.9 (18.1) | 54.4 (18.1) | 54.7 (18.1) | <.001 |
| Relationship to the index case | ||||||||
| Parent, n (%) | 773 (30) | 225 (26) | 31 (25) | 194 (26) | 549 (31) | 162 (32) | 387 (31) | .02 |
| Sibling, n (%) | 1039 (40) | 362 (42) | 50 (41) | 312 (42) | 677 (39) | 195 (39) | 482 (39) | |
| Child, n (%) | 804 (30) | 278 (32) | 42 (34) | 236 (32) | 526 (30) | 145 (29) | 381 (31) | |
| Characteristics . | Total . | Index case had provoked VTE . | Index case had unprovoked VTE . | P‡ . | ||||
|---|---|---|---|---|---|---|---|---|
| Subtotal . | FVL or PGM . | No FVL and no PGM . | Subtotal . | FVL or PGM . | No FVL and no PGM . | |||
| Index cases, n | 507 | 138 | 20 | 118 | 369 | 105 | 264 | |
| Female, n (%) | 248 (49) | 63 (46) | 11 (17) | 52 (82) | 185 (50) | 50 (48) | 135 (51) | .37 |
| Age at diagnosis, mean (SD) | 58.8 (17.7) | 64.0 (16.2) | 61.0 (17.9) | 64.5 (15.9) | 56.8 (17.9) | 53.0 (18.1) | 58.3 (17.6) | <.001 |
| Number of FDR per index case, mean (SD) | 6.9 (3.0) | 7.4 (3.0) | 7.3 (2.9) | 7.6 (3.1) | 6.7 (3.1) | 6.5 (2.5) | 6.8 (3·3) | .04 |
| Number of included FDR per index case, mean (SD) | 5.6 (2.9) | 6.7 (2.9) | 6.7 (2.8) | 6.6 (3.5) | 4.8 (2.8) | 4.8 (2.6) | 4.8 (2.8) | .001 |
| Pulmonary embolism, n (%)* | 278 (55) | 86 (62) | 11 (55) | 75 (64) | 192 (52) | 51 (49) | 141 (53) | .04 |
| Provoking risk factor, n | — | 138 | 20 | 118 | — | — | — | |
| Surgery, n (%) | — | 39 (28) | 5 (25) | 34 (29) | — | — | — | |
| Trauma, n (%) | — | 13 (9) | 4 20) | 9 (7) | — | — | — | |
| Immobilization, n (%) | — | 44 (32) | 3 (15) | 41 (35) | — | — | — | |
| Cancer, n (%) | — | 42 (30) | 8 (40) | 34 (29) | — | — | — | |
| Thrombophilia, n (%) | 125 (25) | 20 (15) | 20 | — | 105 (29) | 105 | — | .001 |
| FVL heterozygote, n (%) | 80 (64) | — | 12 (60) | — | — | 68 (65) | — | |
| FVL homozygote, n (%) | 4 (3) | — | 1 (5) | — | — | 3 (3) | — | |
| PGM heterozygote, n (%) | 35 (28) | — | 7 (35) | — | — | 28 (27) | — | |
| PGM homozygote, n (%) | 1 (1) | — | — | — | — | 1 (1) | — | |
| FVL heterozygote and PGM heterozygote, n (%) | 4 (3) | — | — | — | — | 4 (4) | — | |
| FVL homozygote and PGM heterozygote, n (%) | 1 (1) | — | — | — | — | 1 (1) | — | |
| FDR, n | 2617 | 865 | 123 | 742 | 1752 | 502 | 1250 | |
| Female, n (%) | 1323 (51) | 442 (51) | 59 (48) | 383 (52) | 881 (50) | 256 (51) | 625 (50) | .7 |
| Alive, n (%) | 1819 (70) | 591 (68) | 86 (70) | 505 (68) | 1228 (70) | 372 (74) | 856 (68) | .36 |
| Age, mean (SD)† | 55.6 (18.2) | 57.5 (18.3) | 56.0 (18.5) | 57.7 (18.3) | 54.9 (18.1) | 54.4 (18.1) | 54.7 (18.1) | <.001 |
| Relationship to the index case | ||||||||
| Parent, n (%) | 773 (30) | 225 (26) | 31 (25) | 194 (26) | 549 (31) | 162 (32) | 387 (31) | .02 |
| Sibling, n (%) | 1039 (40) | 362 (42) | 50 (41) | 312 (42) | 677 (39) | 195 (39) | 482 (39) | |
| Child, n (%) | 804 (30) | 278 (32) | 42 (34) | 236 (32) | 526 (30) | 145 (29) | 381 (31) | |
FDR, first-degree relatives; FVL, factor V Leiden; PGM, prothrombin 20210A gene variant; VTE, venous thromboembolism; SD, standard deviation.
Presentation of VTE; all patients with confirmed symptomatic pulmonary embolism are included, whether or not they were also diagnosed with deep vein thrombosis.
Age at enrolment was not available for 101 relatives, mostly because these persons were dead (information obtained from relatives). For all analyses, the age of these relatives was assumed to be the same as the average age of other enrolled relatives in the corresponding category as follows: 49 years for alive men with VTE, 47 years for alive women with VTE, 47 years for alive men without VTE, 49 years for alive women without VTE, 62 years for deceased men without VTE, 70 years for deceased women without VTE, 75 years for deceased men with VTE, and 59 years for deceased women with VTE.
P value for the comparisons of all FDR of index cases who had provoked VTE with all FDR of index cases who had unprovoked VTE.