Tremblay Douglas, Naymagon Leonard, Troy Kevin, Cromwell Caroline, Edwards Colleen, Schiano Thomas, Kremyanskaya Marina, Mascarenhas John
Division of Hematology/Oncology, Tisch Cancer Institute.
Division of Liver Diseases, Recanati/Miller Transplantation Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Blood Coagul Fibrinolysis. 2020 Apr;31(3):213-218. doi: 10.1097/MBC.0000000000000901.
: Thrombophilia testing is frequently performed in both seemingly provoked and unprovoked portal vein thrombosis (PVT), yet the clinical implications of these expensive laboratory tests are unknown. We investigated the frequency of clinical management changes in patients with newly diagnosed PVT. This is a retrospective analysis of adult patients with a newly diagnosed PVT at a single institution. The primary outcome is change in clinical management, defined as documented change in choice, dose, or duration of anticoagulation, future thromboprophylaxis, or counseling of asymptomatic family members. Five-hundred and forty-four patients with PVT were identified, 438 (80.5%) of whom had an identifiable pretesting provoking factor, most commonly cirrhosis (39.2%). Two-hundred ninety-one patients (53.5%) had at least one hypercoagulable laboratory test performed. The most frequently positive test was PAI-1 polymorphism, followed by elevated homocysteine and MTHFR mutational analysis. However, the only test that was frequently positive and consistently altered management was JAK2 mutational analysis (15.3%). Factor V Leiden was commonly positive but rarely changed clinical decision-making (1.5%), as was flow cytometric testing for paroxysmal nocturnal hemoglobinuria (0.8%), and antiphospholipid antibodies (0.7%). Patients with cirrhosis rarely had thrombophilia testing results that were clinically significant. A rough cost estimate was dramatically reduced from $231 000 to $76 000 if only clinically meaningful tests were employed in the hypercoagulable work-up. These results highlight the need for focused thrombophilia testing in patients with PVT.
血栓形成倾向检测在看似有诱因和无诱因的门静脉血栓形成（PVT）中都经常进行，但这些昂贵实验室检测的临床意义尚不清楚。我们调查了新诊断PVT患者临床管理改变的频率。这是对一家机构新诊断为PVT的成年患者的回顾性分析。主要结局是临床管理的改变，定义为抗凝选择、剂量或持续时间、未来血栓预防或无症状家庭成员咨询方面有记录的改变。共识别出544例PVT患者，其中438例（80.5%）有可识别的检测前诱发因素，最常见的是肝硬化（39.2%）。291例患者（53.5%）至少进行了一项高凝实验室检测。最常呈阳性的检测是PAI-1多态性，其次是同型半胱氨酸升高和MTHFR突变分析。然而，唯一经常呈阳性且持续改变管理的检测是JAK2突变分析（15.3%）。因子V莱顿突变通常呈阳性，但很少改变临床决策（1.5%），阵发性夜间血红蛋白尿的流式细胞术检测（0.8%）和抗磷脂抗体检测（0.7%）也是如此。肝硬化患者很少有具有临床意义的血栓形成倾向检测结果。如果在高凝检查中仅采用具有临床意义的检测，粗略的成本估计将从231,000美元大幅降至76,000美元。这些结果凸显了对PVT患者进行针对性血栓形成倾向检测的必要性。
