Department of Medicine, University of Padua Medical School, Via Ospedale, 105, 35128, Padua, Italy.
Division of Medicine, Padua City Hospital, Padua, Italy.
J Thromb Thrombolysis. 2019 Apr;47(3):481-485. doi: 10.1007/s11239-019-01819-8.
To investigate the occurrence of thrombotic events (myocardial infarction, deep vein thrombosis or ischemic stroke) in a group of 39 cases of severe FXII deficiency during a mean 22.5 years follow-up. All patients seen in Padua during the years 1968-2006 will the object of this investigation. FXII was less than or 1% of normal in all cases. Factor FXII activity in unaffected family members was 98% (range 90-140%). No patient or control had a thrombotic event in the past and none were on anticoagulant therapy. FV Leiden was present in one patient and in two controls whereas the G to A20210 prothrombin polymorphism was absent in both groups. There was one death among the patients (breast cancer) and one among the control (car accident). There were two thrombotic events (myocardial infarction and deep vein thrombosis) in the patient group and three (myocardial infarction and two deep vein thrombosis) in the control group. Heterozygous FV Leiden was present in the patient who had venous thrombosis, One of the two control subjects who developed venous thrombosis had heterozygous FV Leiden and was on oral contraception. The second control subject who developed venous thrombosis was on oral contraception and had varicose veins. No ischemic stroke was observed in the patients or controls. Periods of immobilization were 42 days and 38 days, respectively for FXII deficient patients and for the controls. Patients with severe FXII deficiency may present thrombotic events but these are similar to these presented by unaffected family members. As a consequence it may be stated that severe FXII deficiency does not appear to effect thrombotic events.
调查 39 例严重 FXII 缺乏症患者在平均 22.5 年随访期间发生血栓事件（心肌梗死、深静脉血栓形成或缺血性中风）的情况。将对 1968 年至 2006 年期间在帕多瓦就诊的所有患者进行此项调查。所有病例的 FXII 均低于或为正常值的 1%。未受影响的家族成员的 FXII 因子活性为 98%（范围 90-140%）。过去没有患者或对照者发生过血栓事件，也没有使用抗凝治疗。一名患者和两名对照者存在 FV Leiden，两组均不存在 G 至 A20210 凝血酶原突变。患者中有一名死亡（乳腺癌），对照者中有一名死亡（车祸）。患者组有 2 例血栓事件（心肌梗死和深静脉血栓形成），对照组有 3 例（心肌梗死和 2 例深静脉血栓形成）。发生静脉血栓形成的患者存在杂合性 FV Leiden，其中一名发生静脉血栓形成的对照者存在杂合性 FV Leiden，并服用口服避孕药。另一名发生静脉血栓形成的对照者服用口服避孕药且患有静脉曲张。患者或对照者均未发生缺血性中风。FXII 缺乏症患者和对照组的卧床时间分别为 42 天和 38 天。严重 FXII 缺乏症患者可能会发生血栓事件，但与未受影响的家族成员相似。因此，可以认为严重 FXII 缺乏症似乎不会影响血栓事件。
