Bleeding Episodes in Individuals With Homozygous PAI-1 Deficiency
Individual . | Gender . | Age . | Family . | Bleeding Episodes . |
---|---|---|---|---|
1 | Female | 15 y | 1 | Life-threatening postoperative hemorrhage requiring transfusion. Large palatal hemorrhage requiring hospitalization and transfusion. Protracted menstrual bleeding resulting in anemia. |
(Proband) | ||||
2 | Male | 4 mo | 1 | Large epidural hematoma requiring surgical drainage after minor head trauma. |
3 | Female | 14 y | 2 | Large subperiosteal mandibular bleed after striking jaw. Subcutaneous hematomas after minimal trauma. Excessive bruising. |
4 | Male | 13 y | 2 | Elbow and knee hemarthroses after minor trauma. Delayed bleeding after repair of inguinal hernia. |
5 | Female | 11 y | 2 | Frequent bruising. |
6 | Female | 5 y | 2 | Knee hemarthroses. |
7 | Female | 2 y | 2 | Frequent bruising. |
Individual . | Gender . | Age . | Family . | Bleeding Episodes . |
---|---|---|---|---|
1 | Female | 15 y | 1 | Life-threatening postoperative hemorrhage requiring transfusion. Large palatal hemorrhage requiring hospitalization and transfusion. Protracted menstrual bleeding resulting in anemia. |
(Proband) | ||||
2 | Male | 4 mo | 1 | Large epidural hematoma requiring surgical drainage after minor head trauma. |
3 | Female | 14 y | 2 | Large subperiosteal mandibular bleed after striking jaw. Subcutaneous hematomas after minimal trauma. Excessive bruising. |
4 | Male | 13 y | 2 | Elbow and knee hemarthroses after minor trauma. Delayed bleeding after repair of inguinal hernia. |
5 | Female | 11 y | 2 | Frequent bruising. |
6 | Female | 5 y | 2 | Knee hemarthroses. |
7 | Female | 2 y | 2 | Frequent bruising. |
A total of three life-threatening bleeds (in individuals 1 and 2) were observed during 60 patient-years of observation. Family 1 contains the proband, as shown in Fig 1. Family 2 is the family shown in Fig 2.