初步实验室筛查
常规实验室筛查和术前筛查通常包括基于活化部分凝血活酶时间(aPTT)的一期法凝血试验。典型的FXII CD患者表现为单独aPTT延长,无出血倾向或出血家族史。除用于科研目的,不推荐在FXII CD患者常规进行分子检测(基因分型)。
纠正试验
将患者血浆与正常血浆进行1:1混合,可以排除针对凝血因子VIII、IX、XI和XII同种抗体的存在。
因子活性检测
FXII
CD患者凝血因子活性检测显示FVIII、FIX或FXI活性正常可排除上述因子缺乏导致aPTT延长的可能,而仅表现为单独的FXII活性降低。
1. Endler G, Marsik C, Jilma B, Schickbauer T, Quehenberger P, Mannhalter C. Evidence of a U-shaped association between factor XII activity and overall survival. J Thromb Haemost 2007;5:1143-8.
2. Björkqvist J, Nickel KF, Stavrou E, Renné T. In vivo activation and functions of the protease factor XII. Thromb Haemost 2014;112:868-75.
3. Renné T, Gailani D. Role of Factor XII in hemostasis and thrombosis: clinical implications. Expert Rev Cardiovasc Ther 2007;5:733-41.
4. Muller F, Gailani D, Renne T. Factor XI and XII as antithrombotic targets. Curr Opin Hematol 2011;18:349-55.
5. Weidmann H, Heikaus L, Long AT, Naudin C, Schluter H, Renne T. The plasma contact system, a protease cascade at the nexus of inflammation, coagulation and immunity. Biochim Biophys Acta Mol Cell Res 2017;1864:2118-27.