Zeerleder S, Schloesser M, Redondo M, Wuillemin W A, Engel W, Furlan M, Lämmle B
Central Hematology Laboratory, University Hospital of Bern, Switzerland.
Thromb Haemost. 1999 Oct;82(4):1240-6.
To further elucidate the debated role of hereditary FXII deficiency as a thrombophilic risk factor this follow-up study on 65 subjects out of 12 Swiss families was undertaken (follow-up: 6 yrs). Fifteen severely FXII deficient subjects (FXII:C < 1%), 35 partially FXII deficient subjects (FXII:C > or = 1-59%), 10 with normal FXII values (FXII:C > or = 70%), and 5 non-classifiable subjects (FXII:C > or = 60-69%) were reevaluated. Eight subjects (4 severely and 3 partially FXII deficient, 1 non-classifiable) were newly enrolled. Four instances of deep vein thrombosis, one superficial vein thrombosis and one myocardial infarction were noted in 2 out of 19 severely FXII deficient subjects during a total life-time period of 866.6 patient-years. In 38 partially FXII deficient subjects (1862.8 patient-years) one ischemic cerebrovascular stroke and one superficial vein thrombosis were recorded in 2 individuals. The 10 subjects with normal FXII values (498.2 patient-years) remained thrombosis-free. One superficial vein thrombosis occurred in an unclassifiable woman. None of the 3 different FXII gene defects revealed in our patients was specifically associated with thromboembolic complications. Kaplan-Meier analysis of thrombosis-free survival suggests that hereditary partial (and probably severe) FXII deficiency does not constitute a thrombophilic condition.
为了进一步阐明遗传性因子Ⅻ缺乏作为一种血栓形成风险因素这一存在争议的作用，我们对来自12个瑞士家庭的65名受试者进行了这项随访研究（随访时间：6年）。重新评估了15名严重因子Ⅻ缺乏的受试者（因子Ⅻ：C<1%）、35名部分因子Ⅻ缺乏的受试者（因子Ⅻ：C≥1%-59%）、10名因子Ⅻ值正常的受试者（因子Ⅻ：C≥70%）以及5名无法分类的受试者（因子Ⅻ：C≥60%-69%）。新纳入了8名受试者（4名严重和3名部分因子Ⅻ缺乏，1名无法分类）。在19名严重因子Ⅻ缺乏受试者的866.6患者年的总生存期内，观察到2例深静脉血栓形成、1例浅静脉血栓形成和1例心肌梗死。在38名部分因子Ⅻ缺乏的受试者（1862.8患者年）中，记录到2例个体发生1例缺血性脑血管卒中及1例浅静脉血栓形成。10名因子Ⅻ值正常的受试者（498.2患者年）未发生血栓形成。1名无法分类的女性发生了1例浅静脉血栓形成。在我们的患者中发现的3种不同的因子Ⅻ基因缺陷均未与血栓栓塞并发症有特异性关联。对无血栓生存的Kaplan-Meier分析表明，遗传性部分（可能还有严重）因子Ⅻ缺乏并不构成一种血栓形成状态。
