Table 1. Phenotypic data of the four families with plasminogen deficiency.
| Family | Relationship to proband | Age (years) | Age at first episode of thrombosis (years) | Sex | Thrombotic events | Relevant data for thrombotic disease* | Plasminogen activity (%)† |
|---|---|---|---|---|---|---|---|
| A | Proband | 49 | 49 | F | DVT | Negative | 24 |
| Son | 22 | — | M | No | Negative | 67 | |
| Son | 13 | — | M | No | Negative | 58 | |
| B | Proband | 46 | 25 | F | DVT | Negative | 47 |
| Mother | 74 | — | F | TIA | Positive APLA | 67 | |
| Daughter | 25 | — | F | No | Negative | 50 | |
| Sibling | 51 | — | F | No | Negative | 58 | |
| Sibling | 44 | — | F | No | Negative | 82 | |
| C | Proband | 43 | 43 | M | DVT | Negative | 68 |
| Sibling | 31 | — | F | No | Negative | 64 | |
| Mother | 63 | — | F | No | Negative | 64 | |
| Maternal aunt | 60 | — | F | No | Negative | 101 | |
| D | Proband | 50 | 48 | F | IS | Positive APLA | 55 |
F: female; M: male; DVT: deep venous thrombosis; TIA: transient ischemic attack; IS: ischemic stroke; APLA: antiphospholipid antibodies.
*Thrombophilia investigations included lupus anticoagulant, antiphospholipid antibodies of immunoglobulin G (IgG) and IgM types, homocysteine, antithrombin, Protein C measured with two functional tests and Protein S (free) measurements.
†Normal range of plasminogen activity: 72% to 127%.