Knöfler R, Siegert E, Lauterbach I, Taut-Sack H, Siegert G, Gehrisch S, Müller D, Rupprecht E, Kabus M
Department of Pediatrics, Medical Faculty of Technical University, Dresden, Germany.
Eur J Pediatr. 1999 Dec;158 Suppl 3:S147-50. doi: 10.1007/pl00014342.
To evaluate the role of inherited thrombophilia in the development of central venous line (CVL)-related thrombosis, the following parameters were determined in 77 pediatric-oncologic patients with CVL: activated protein C (APC)-ratio, factor V (FV) G1691A and prothrombin G20210A mutation, protein C, protein S, antithrombin, coagulation factor XII, lipoprotein (a) and homocysteine. An inherited prothrombotic risk factor was found in 17 patients (23%). Four out of 14 patients with a single detect (hyperlipoproteinemia, heterozygous FV G1691A and prothrombin G20210A mutation, protein C deficiency type I) and all three patients with combined defects (heterozygous FV G1691A mutation combined with heterozygous prothrombin G20210A variant, protein S deficiency or hyperlipoproteinemia) suffered from CVL-related thrombosis. In 11 out of 77 patients (14%) a CVL-related thrombosis was detected. In 2 children thrombosis occurred a few days after asparaginase therapy and in another three thrombosis was associated with CVL-related septicemia caused by Staphylococcus epidermidis. After removal of CVL, thrombosis was detected in 5 children, in 2 without clinical symptoms but in the presence of inherited prothrombotic risk factors.
The present study demonstrates the clinical importance of CVL in combination with inherited thrombophilia in the development of thrombosis in pediatric-oncologic patients. Before or shortly after insertion of CVL, patients should be tested for the presence of factor V G1691A mutation, prothrombin G20210A variant and increased lipoprotein (a) values.
为评估遗传性易栓症在中心静脉导管(CVL)相关血栓形成中的作用,对77例患有CVL的儿科肿瘤患者测定了以下参数:活化蛋白C(APC)比率、凝血因子V(FV)G1691A和凝血酶原G20210A突变、蛋白C、蛋白S、抗凝血酶、凝血因子XII、脂蛋白(a)和同型半胱氨酸。17例患者(23%)发现存在遗传性血栓形成风险因素。在14例单一检测出异常的患者中(高脂蛋白血症、FV G1691A和凝血酶原G20210A杂合突变、I型蛋白C缺乏症)有4例,以及所有3例存在复合缺陷的患者(FV G1691A杂合突变与凝血酶原G20210A杂合变异、蛋白S缺乏症或高脂蛋白血症合并)均发生了CVL相关血栓形成。77例患者中有11例(14%)检测出CVL相关血栓形成。2例儿童在使用天冬酰胺酶治疗几天后发生血栓形成,另外3例血栓形成与表皮葡萄球菌引起的CVL相关败血症有关。拔除CVL后,5例儿童检测出血栓形成,其中2例无临床症状,但存在遗传性血栓形成风险因素。
本研究证明了CVL与遗传性易栓症相结合在儿科肿瘤患者血栓形成中的临床重要性。在插入CVL之前或之后不久,应检测患者是否存在FV G1691A突变、凝血酶原G20210A变异以及脂蛋白(a)值升高。