Characteristics of the study population of relatives according to the genotype and clinical presentation of the proband
| Proband characteristics (phenotype and genotype) . | Relatives . | |||||
|---|---|---|---|---|---|---|
| Wild-type . | Heterozygous PT20210A . | Heterozygous FVL . | Homozygous PT20210A . | Homozygous FVL . | Combined polymorphisms* . | |
| Asymptomatic, obstetrical complications, arterial thrombosis | ||||||
| Homozygous (24 kindreds) | ||||||
| n (M/F) | 23 (13/10) | 38 (16/22) | 32 (15/17) | 2 (0/2) | 6 (4/2) | 9 (2/7) |
| Age at visit, y† | 38 (26-53) | 51 (26-60) | 44 (22-62) | 49 (29-62) | 33 (27-39) | 31 (14-53) |
| VTE, n (%) | 0 | 1 (3) | 0 | 1 (50) | 1 (17) | 0 |
| Age at VTE, y† | –– | 52 (––) | –– | 29 (––) | 34 (––) | –– |
| Heterozygous (17 kindreds) | ||||||
| n (M/F) | 31 (7/24) | 10 (6/4) | 27 (18/9) | 3 (0/3) | 18 (7/11) | 0 |
| Age at visit, y† | 41 (32-57) | 55 (29-69) | 46 (31-61) | 45 (36-56) | 30 (18-50) | –– |
| VTE, n (%) | 0 | 0 | 1 (4) | 0 | 2 (11) | –– |
| Age at VTE, y† | –– | –– | 69 (––) | –– | 51 (48-55) | –– |
| Superficial vein thrombosis | ||||||
| Homozygous (24 kindreds) | ||||||
| n (M/F) | 22 (9/13) | 3 (1/2) | 74 (34/40) | 2 (2/0) | 14 (5/9) | 1 (1/0) |
| Age at visit, y | 29 (14-56) | 20 (16-37) | 38 (25-56) | 29 (13-45) | 35 (21-47) | 3 (––) |
| VTE, n (%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Age at VTE, y† | –– | –– | –– | –– | –– | –– |
| Heterozygous (5 kindreds) | ||||||
| n (M/F) | 14 (4/10) | 0 | 10 (2/8) | 0 | 6 (3/3) | 3 (1/2) |
| Age at visit, y† | 50 (37-64) | –– | 47 (25-65) | –– | 32 (24-59) | 25 (11-48) |
| VTE, n (%) | 0 | –– | 0 | –– | 0 | 1 (33) |
| Age at VTE, y† | –– | –– | –– | –– | –– | 40 (––) |
| VTE | ||||||
| Homozygous (76 kindreds) | ||||||
| n (M/F) | 52 (17/35) | 47 (17/30) | 148 (57/91) | 12 (5/7) | 23 (16/7) | 23 (13/10) |
| Age at visit, y† | 34 (21-47) | 39 (25-53) | 39 (24-54) | 32 (24-42) | 38 (27-50) | 43 (29-56) |
| VTE, n (%) | 0 | 0 | 3 (2) | 0 | 2 (9) | 1 (5) |
| Age at VTE, y† | –– | –– | 47 (24-62) | –– | 26 (24-27) | 61 (––) |
| Heterozygous (46 kindreds) | ||||||
| n (M/F) | 62 (31/31) | 31 (15/16) | 87 (36/51) | 17 (9/8) | 34 (13/21) | 2 (1/1) |
| Age at visit, y† | 38 (30-48) | 39 (26-55) | 43 (26-61) | 32 (21-43) | 36 (25-47) | 67 (59-75) |
| VTE, n (%) | 0 | 2 (6) | 6 (7) | 0 | 6 (18) | 0 |
| Age at VTE, y† | –– | 44 (35-53) | 61 (27-64) | –– | 33 (24-46) | –– |
| Proband characteristics (phenotype and genotype) . | Relatives . | |||||
|---|---|---|---|---|---|---|
| Wild-type . | Heterozygous PT20210A . | Heterozygous FVL . | Homozygous PT20210A . | Homozygous FVL . | Combined polymorphisms* . | |
| Asymptomatic, obstetrical complications, arterial thrombosis | ||||||
| Homozygous (24 kindreds) | ||||||
| n (M/F) | 23 (13/10) | 38 (16/22) | 32 (15/17) | 2 (0/2) | 6 (4/2) | 9 (2/7) |
| Age at visit, y† | 38 (26-53) | 51 (26-60) | 44 (22-62) | 49 (29-62) | 33 (27-39) | 31 (14-53) |
| VTE, n (%) | 0 | 1 (3) | 0 | 1 (50) | 1 (17) | 0 |
| Age at VTE, y† | –– | 52 (––) | –– | 29 (––) | 34 (––) | –– |
| Heterozygous (17 kindreds) | ||||||
| n (M/F) | 31 (7/24) | 10 (6/4) | 27 (18/9) | 3 (0/3) | 18 (7/11) | 0 |
| Age at visit, y† | 41 (32-57) | 55 (29-69) | 46 (31-61) | 45 (36-56) | 30 (18-50) | –– |
| VTE, n (%) | 0 | 0 | 1 (4) | 0 | 2 (11) | –– |
| Age at VTE, y† | –– | –– | 69 (––) | –– | 51 (48-55) | –– |
| Superficial vein thrombosis | ||||||
| Homozygous (24 kindreds) | ||||||
| n (M/F) | 22 (9/13) | 3 (1/2) | 74 (34/40) | 2 (2/0) | 14 (5/9) | 1 (1/0) |
| Age at visit, y | 29 (14-56) | 20 (16-37) | 38 (25-56) | 29 (13-45) | 35 (21-47) | 3 (––) |
| VTE, n (%) | 0 | 0 | 0 | 0 | 0 | 0 |
| Age at VTE, y† | –– | –– | –– | –– | –– | –– |
| Heterozygous (5 kindreds) | ||||||
| n (M/F) | 14 (4/10) | 0 | 10 (2/8) | 0 | 6 (3/3) | 3 (1/2) |
| Age at visit, y† | 50 (37-64) | –– | 47 (25-65) | –– | 32 (24-59) | 25 (11-48) |
| VTE, n (%) | 0 | –– | 0 | –– | 0 | 1 (33) |
| Age at VTE, y† | –– | –– | –– | –– | –– | 40 (––) |
| VTE | ||||||
| Homozygous (76 kindreds) | ||||||
| n (M/F) | 52 (17/35) | 47 (17/30) | 148 (57/91) | 12 (5/7) | 23 (16/7) | 23 (13/10) |
| Age at visit, y† | 34 (21-47) | 39 (25-53) | 39 (24-54) | 32 (24-42) | 38 (27-50) | 43 (29-56) |
| VTE, n (%) | 0 | 0 | 3 (2) | 0 | 2 (9) | 1 (5) |
| Age at VTE, y† | –– | –– | 47 (24-62) | –– | 26 (24-27) | 61 (––) |
| Heterozygous (46 kindreds) | ||||||
| n (M/F) | 62 (31/31) | 31 (15/16) | 87 (36/51) | 17 (9/8) | 34 (13/21) | 2 (1/1) |
| Age at visit, y† | 38 (30-48) | 39 (26-55) | 43 (26-61) | 32 (21-43) | 36 (25-47) | 67 (59-75) |
| VTE, n (%) | 0 | 2 (6) | 6 (7) | 0 | 6 (18) | 0 |
| Age at VTE, y† | –– | 44 (35-53) | 61 (27-64) | –– | 33 (24-46) | –– |