PDF(Pubmed)
Abstract：
Hypofibrinogenemia and Factor XI deficiency are rare defects of hemostasis, potentially leading to spontaneous bleeding manifestations and increased bleeding risk during surgery, dentistry, and interventions. Due to the different mode of inheritance, the concomitance of both defects is extremely rare and the clinical management of combined hypofibrinogenemia and factor XI deficiency is not standardized. Here, we report a rare case of concomitant genetically determined hypofibrinogenemia and factor XI deficiency as a cause of increased spontaneous bleeding and bleeding complications during dentistry. The diagnostic procedure including screening assays, single clotting factor determinations, genetic analyses, and also use of thrombin generation assays (TGA) are described. Also, we present our considerations regarding the development of an adequate prophylaxis of bleeding with fibrinogen concentrate in this case. The literature regarding the issue is briefly discussed.
摘要：
低纤维蛋白原血症和因子XI缺乏是罕见的止血缺陷，可能导致自发性出血表现和手术期间出血风险增加，牙科,和干预。由于继承方式的不同,这两种缺陷的并发极为罕见，低纤维蛋白原血症和XI因子缺乏症的临床治疗尚不规范。这里,我们报道了一例罕见的病例,其伴随的基因决定的低纤维蛋白原血症和XI因子缺乏是牙科期间自发性出血和出血并发症增加的原因.诊断程序包括筛选试验，单凝血因子测定，遗传分析,还描述了凝血酶生成测定(TGA)的用途。此外，在这种情况下，我们提出了关于使用纤维蛋白原浓缩物充分预防出血的考虑。简要讨论了有关该问题的文献。
