Signorelli Salvatore Santo, Fiore Valerio, Puccia Giuseppe, Mastrosimone Gianluca, Anzaldi Massimiliano
Department of Medical and Pediatric Science, University of Catania, Medical Angiology Unit Hospital Garibaldi, Catania, Italy
Department of Medical and Pediatric Science, University of Catania, Medical Angiology Unit Hospital Garibaldi, Catania, Italy.
Clin Appl Thromb Hemost. 2014 Sep;20(6):589-93. doi: 10.1177/1076029612474716. Epub 2013 Jan 29.
A debate concerns the utility of large screening for acquired or inherited thrombophilia. The study concerns relationship between inherited thrombophilic status and lower limb deep vein thrombosis (LDVT) and highlights the possible use of extensive thrombophilia screening to determine an emerging risk of LDVT. From January 2010 to January 2012, 103 consecutive patients with LDVT were considered. In all, 57 (55.3%) patients with LDVT showed inherited thrombophilia. The most frequent trombophilic alterations were deficiency of protein S (33 patients, 32.0%), methylentethrafolate reductase (MTHFR) gene C677T variant (22 patients, 21.4%), protrombin gene G20210A alteration (50, 14.6%), and deficiency of protein C (12, 11.6%). Age and MTHFR variant were found related to LDVT and thrombophilia was related to distal LDVT. A high frequency of thrombophylic factor was found in patients with LDVT, but we believe that a generic genetic screening should not be suggested for these patients.
关于对获得性或遗传性易栓症进行大规模筛查的实用性存在争议。该研究关注遗传性易栓状态与下肢深静脉血栓形成（LDVT）之间的关系，并强调了广泛的易栓症筛查在确定LDVT新出现风险方面的可能用途。从2010年1月至2012年1月，纳入了103例连续的LDVT患者。总体而言，57例（55.3%）LDVT患者表现出遗传性易栓症。最常见的易栓改变是蛋白S缺乏（33例患者，32.0%）、亚甲基四氢叶酸还原酶（MTHFR）基因C677T变异（22例患者，21.4%）、凝血酶原基因G20210A改变（50例，14.6%）以及蛋白C缺乏（12例，11.6%）。发现年龄和MTHFR变异与LDVT有关，且易栓症与远端LDVT有关。在LDVT患者中发现了高频率的易栓因素，但我们认为不应对这些患者建议进行常规基因筛查。
