A SILENT BITE : FACTOR XII DEFICIENCY UNMASKED IN THE WAKE OF A SNAKE ENCOUNTER

Srutdi Kamalam Natarajan, Sairaksha Sudhakar, Devasena Srinivasan
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Abstract

Factor 12 or the Hageman factor plays an essential role in the initiation of the intrinsic or the contact pathway of coagulation. The activation of the pathway occurs either due to direct contact with a negatively charged surface like glass or kaolin or proteolytic activation through prekallikrein and kallikrein system. Activated partial thromboplastin time or aPTT clotting assay is the test which is used to evaluate the status of the intrinsic pathway. Factor 12 deciency is a rare genetic disorder which usually follows an autosomal recessive pattern of inheritance however an autosomal dominant inheritance has also been reported. There is no established data regarding the prevalence of Factor 12 deciency in the normal population. Based on a study conducted on 300 healthy blood donors, an estimated prevalence of 2.3% has been reported according to Halbmayer WM, et al. The incidence of the condition is about 1 in 1,000,000 individuals. In patients with a deciency of Factor 12, the aPTT is typically prolonged and there are no associated bleeding tendencies. More often there is an increased risk of arterial or venous thromboembolic events and the patient is usually asymptomatic according to Chaudhry LA, et al.
无声的咬伤:遭遇毒蛇后揭开因子 XII 缺陷的面纱
因子 12 或哈格曼因子在启动凝血的内在或接触途径中起着至关重要的作用。该途径的激活要么是由于与带负电荷的表面(如玻璃或高岭土)直接接触,要么是通过前凝血酶和凝血酶原系统进行蛋白水解激活。活化部分凝血活酶时间或 aPTT 凝血试验是用于评估内在通路状态的检测方法。因子 12 缺乏症(Factor 12 deciency)是一种罕见的遗传性疾病,通常为常染色体隐性遗传,但也有常染色体显性遗传的报道。关于因子 12 脱ciency 在正常人群中的发病率,目前还没有确定的数据。根据 Halbmayer WM 等人对 300 名健康献血者进行的一项研究,估计发病率为 2.3%。在因子 12 缺乏症患者中,aPTT 通常会延长,但没有相关的出血倾向。根据 Chaudhry LA 等人的研究,动脉或静脉血栓栓塞事件的风险通常会增加,而患者通常没有症状。
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