Type of symptom in the study population of relatives according to the genotype and clinical presentation of the proband
| Proband characteristics (phenotype and genotype) . | Relatives, n . | Symptomatic relatives, n (%) . | Type of symptom, n (%)* . | |||
|---|---|---|---|---|---|---|
| VTE . | Superficial vein thrombosis . | Arterial thrombosis . | Obstetric complications . | |||
| Asymptomatic, obstetric complications, arterial thrombosis | ||||||
| Homozygous (24 kindreds) | 110 | 11 (10) | 3 (27) | 5 (45) | 2 (18)† | 1 (9) |
| Heterozygous (17 kindreds) | 89 | 9 (10) | 3 (33) | 2 (22) | 4 (44) | 0 (—) |
| Superficial vein thrombosis | ||||||
| Homozygous (24 kindreds) | 116 | 13 (11) | 0 (—) | 11 (85)‡ | 2 (15) | 1 (8) |
| Heterozygous (5 kindreds) | 33 | 10 (30) | 1 (10) | 9 (90) | 0 (—) | 0 (—) |
| VTE | ||||||
| Homozygous (76 kindreds) | 305 | 27 (9) | 6 (22)¶ | 15 (56) | 6 (22) | 1 (4) |
| Heterozygous (46 kindreds) | 233 | 42 (18) | 14 (33)§ | 22 (52) | 6 (14) | 2 (5)‖ |
| Proband characteristics (phenotype and genotype) . | Relatives, n . | Symptomatic relatives, n (%) . | Type of symptom, n (%)* . | |||
|---|---|---|---|---|---|---|
| VTE . | Superficial vein thrombosis . | Arterial thrombosis . | Obstetric complications . | |||
| Asymptomatic, obstetric complications, arterial thrombosis | ||||||
| Homozygous (24 kindreds) | 110 | 11 (10) | 3 (27) | 5 (45) | 2 (18)† | 1 (9) |
| Heterozygous (17 kindreds) | 89 | 9 (10) | 3 (33) | 2 (22) | 4 (44) | 0 (—) |
| Superficial vein thrombosis | ||||||
| Homozygous (24 kindreds) | 116 | 13 (11) | 0 (—) | 11 (85)‡ | 2 (15) | 1 (8) |
| Heterozygous (5 kindreds) | 33 | 10 (30) | 1 (10) | 9 (90) | 0 (—) | 0 (—) |
| VTE | ||||||
| Homozygous (76 kindreds) | 305 | 27 (9) | 6 (22)¶ | 15 (56) | 6 (22) | 1 (4) |
| Heterozygous (46 kindreds) | 233 | 42 (18) | 14 (33)§ | 22 (52) | 6 (14) | 2 (5)‖ |
Percentage calculated on the number of symptomatic relatives.
One retinal thrombosis.
One relative had superficial vein thrombosis 12 years after myocardial infarction.
One relative had VTE soon after an obstetrical complication.
One relative had VTE 8 years after SVT
One relative had an obstetrical complication 2 years after VTE