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Abstract：
To investigate the incidence of thrombotic events in patients heterozygous for FXII deficiency during a long observation period.
103 heterozygotes for FXII deficiency, 49 female and 54 male were followed for 19.6 years (range 5-32 years). As controls 103 unaffected family members of same sex and similar age (±5 years) were enrolled. The thrombotic end points were: myocardial infarction, deep vein thrombosis and ischemic stroke. The mean Factor XII level in the heterozygotes was 48.5%: range (35-60%) that of control was 96.5% (range 70-155%). The heterozygotes showed one myocardial infarction, two deep vein thromboses and no ischemic stroke. The unaffected family members observed 2 myocardial infarctions, one deep vein thrombosis and one ischemic stroke. There were seven deliveries (five women) among the heterozygotes and six (five women) among the controls. Furthermore, four and five surgical procedures were carried out in the patient and in the control group, respectively. Immobilization times for surgical procedures or pregnancies were 50 days and 57 days for the heterozygotes and the unaffected family members, respectively. Heterozygotes for FXII deficiency did not show an increased incidence of thrombotic events as compared with unaffected family members during a long follow up.
103 heterozygotes for FXII deficiency, 49 female and 54 male were followed for 19.6 years (range 5-32 years). As controls 103 unaffected family members of same sex and similar age (±5 years) were enrolled. The thrombotic end points were: myocardial infarction, deep vein thrombosis and ischemic stroke. The mean Factor XII level in the heterozygotes was 48.5%: range (35-60%) that of control was 96.5% (range 70-155%). The heterozygotes showed one myocardial infarction, two deep vein thromboses and no ischemic stroke. The unaffected family members observed 2 myocardial infarctions, one deep vein thrombosis and one ischemic stroke. There were seven deliveries (five women) among the heterozygotes and six (five women) among the controls. Furthermore, four and five surgical procedures were carried out in the patient and in the control group, respectively. Immobilization times for surgical procedures or pregnancies were 50 days and 57 days for the heterozygotes and the unaffected family members, respectively. Heterozygotes for FXII deficiency did not show an increased incidence of thrombotic events as compared with unaffected family members during a long follow up.
摘要：
探讨FXII缺乏症杂合子患者在长期观察期间血栓事件的发生率。
103个FXII缺乏症的杂合子，49名女性和54名男性被随访19.6年(范围5-32年)。作为对照，招募了103名相同性别和相似年龄（±5岁）的未受影响的家庭成员。血栓性终点为：心肌梗塞，深静脉血栓形成和缺血性中风。杂合子中的平均因子XII水平为48.5%:对照的范围(35-60%)为96.5%(范围70-155%)。杂合子显示一个心肌梗塞，两处深静脉血栓形成，无缺血性卒中。未受影响的家庭成员观察到2次心肌梗塞，一次深静脉血栓形成和一次缺血性中风。杂合子中有7个分娩（5名妇女），对照组中有6个分娩（5名妇女）。此外，在患者和对照组中进行了四次和五次外科手术，分别。手术或怀孕的固定时间分别为50天和57天的杂合子和未受影响的家庭成员，分别。在长期随访中，与未受影响的家庭成员相比，FXII缺乏症的杂合子未显示血栓形成事件的发生率增加。
103个FXII缺乏症的杂合子，49名女性和54名男性被随访19.6年(范围5-32年)。作为对照，招募了103名相同性别和相似年龄（±5岁）的未受影响的家庭成员。血栓性终点为：心肌梗塞，深静脉血栓形成和缺血性中风。杂合子中的平均因子XII水平为48.5%:对照的范围(35-60%)为96.5%(范围70-155%)。杂合子显示一个心肌梗塞，两处深静脉血栓形成，无缺血性卒中。未受影响的家庭成员观察到2次心肌梗塞，一次深静脉血栓形成和一次缺血性中风。杂合子中有7个分娩（5名妇女），对照组中有6个分娩（5名妇女）。此外，在患者和对照组中进行了四次和五次外科手术，分别。手术或怀孕的固定时间分别为50天和57天的杂合子和未受影响的家庭成员，分别。在长期随访中，与未受影响的家庭成员相比，FXII缺乏症的杂合子未显示血栓形成事件的发生率增加。
