McRae Hannah L, Müller Jens, Rühl Heiko, Pötzsch Bernd
Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany.
Hamostaseologie. 2024 Dec 10. doi: 10.1055/a-2447-5522.
Thrombophilia management is based on the personal and family history of thrombosis. Current guidelines recommend performing thrombophilia testing only when the results will change clinical management. To investigate to what extent treatment recommendations changed following thrombophilia testing, clinical and laboratory data of 255 patients with and without venous thromboembolism who underwent thrombophilia screening were assessed retrospectively. A local score based on clinical indicators for thrombophilia was used to assess the pretest probability of thrombophilia. A total of 144 patients (57.6%) were found to have a clear thrombophilic phenotype, of which 78 were predicted to have definite thrombophilia and considered for indefinite anticoagulation; 66 were likely to have thrombophilia and were considered for indefinite or prolonged anticoagulation. Eighty-three (32.5%) could not be clearly classified and 28 (11%) were asymptomatic. A thrombophilic risk factor was diagnosed in 98 (38.4%) patients; this included 64 of 144 (44.5%) patients with a clear thrombophilic phenotype and 26 of 83 (31.3%) patients who could not be easily classified. Treatment recommendations changed in 57 of 255 (22%) patients following thrombophilia testing. Eight patients were switched from direct oral anticoagulants to vitamin K antagonists due to confirmed triple-positive antiphospholipid syndrome. In 49 patients, the anticoagulant dose was either increased ( = 3) or treatment was prolonged ( = 46) following diagnosis of high-risk thrombophilia. Clinically, assessing thrombophilia probability score before thrombophilia testing improves thrombophilia management recommendations.
血栓形成倾向的管理基于个人和家族血栓形成病史。当前指南建议仅在检测结果会改变临床管理时才进行血栓形成倾向检测。为了调查血栓形成倾向检测后治疗建议的改变程度，我们对255例接受血栓形成倾向筛查的有或无静脉血栓栓塞患者的临床和实验室数据进行了回顾性评估。基于血栓形成倾向临床指标的局部评分用于评估血栓形成倾向的检测前概率。共发现144例患者（57.6%）具有明确的血栓形成倾向表型，其中78例被预测为确诊血栓形成倾向并考虑长期抗凝；66例可能患有血栓形成倾向，考虑长期或延长抗凝。83例（32.5%）无法明确分类，28例（11%）无症状。98例（38.4%）患者诊断出有血栓形成倾向危险因素；这包括144例有明确血栓形成倾向表型患者中的64例（44.5%）以及83例不易分类患者中的26例（31.3%）。255例患者中有57例（22%）在血栓形成倾向检测后治疗建议发生改变。8例患者因确诊三阳性抗磷脂综合征从直接口服抗凝剂改为维生素K拮抗剂。在49例患者中，诊断为高危血栓形成倾向后，抗凝剂剂量增加（n = 3）或治疗延长（n = 46）。临床上，在进行血栓形成倾向检测前评估血栓形成倾向概率评分可改善血栓形成倾向的管理建议。
