Korte Wolfgang, Poon Man-Chiu, Iorio Alfonso, Makris Michael
Center for Laboratory Medicine; and Hemostasis and Hemophilia Center St. Gallen, Switzerland.
Department of Medicine, Pediatrics and Oncology, University of Calgary, Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Foothills Hospital, Calgary, AB, Canada.
Transfus Med Hemother. 2017 Apr;44(2):70-76. doi: 10.1159/000452864. Epub 2017 Mar 14.
Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening. Due to the low prevalence of IFD, there is little information on pathophysiology or optimal treatment of thrombosis in these patients. We searched the literature for cases of thrombosis among IFD patients and identified a total of 128 patient reports. In approximately half of the cases, thromboses were spontaneous, while in the others trauma, surgery, and parturition contributed to the risk. The true mechanism(s) of thrombosis in IFD patients remain to be elucidated. A variety of anticoagulant treatments have been used in the treatment or prevention of thrombosis, sometimes with concurrent fibrinogen replacement therapy. There is no definite evidence that fibrinogen supplementation increases the risk of thrombosis, and it may potentially be effective in the treatment and prevention of both thrombosis and hemorrhage in IFD patients.
尽管遗传性纤维蛋白原紊乱（IFD）主要被认为是出血性疾病，但与其他凝血因子缺陷相比，它们与更高的血栓形成并发症风险相关。对患有血栓形成的IFD患者进行管理具有挑战性，因为抗凝治疗可能会加剧潜在的危及生命的出血风险。由于IFD的患病率较低，关于这些患者血栓形成的病理生理学或最佳治疗方法的信息很少。我们在文献中搜索了IFD患者中的血栓形成病例，共识别出128例患者报告。在大约一半的病例中，血栓形成是自发的，而在其他病例中，创伤、手术和分娩增加了风险。IFD患者血栓形成的真正机制仍有待阐明。在血栓形成的治疗或预防中使用了多种抗凝治疗方法，有时还同时进行纤维蛋白原替代治疗。没有确凿证据表明补充纤维蛋白原会增加血栓形成风险，并且它可能对IFD患者的血栓形成和出血的治疗及预防都有效。
