Natural history of patients with congenital dysfibrinogenemia

Natural history of patients with congenital dysfibrinogenemia
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DOI：
10.1182/blood-2014-06-582866
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发表时间：
2015-01-15
期刊：
BLOOD
影响因子：
20.3
通讯作者：
de Moerloose, Philippe
de Moerloose, Philippe
中科院分区：
医学1区
文献类型：
--
作者：
Casini, Alessandro;Blondon, Marc;de Moerloose, Philippe

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我们对101例先天性异常纤维蛋白原血症（CD）患者进行了一项多中心研究，以描述出血和血栓形成事件以及妊娠和手术并发症的发生率。在诊断时，分别有10.9%和13.9%的患者发生了大出血和血栓形成事件。在CD诊断后平均8.8年的随访期间，大出血和血栓形成事件的发生率分别为2.5和18.7/1000患者-年，50岁时的估计累积发生率分别为19.2%和30.1%。我们确定了111例妊娠，自然流产和产后出血的总发生率分别为19.8%和21.4%。产后出血的风险与先前确定的出血表型相关（比值比，5.8; 95%CI，1.2至28.0）。在分析的137例外科手术中，9例（6.5%）并发异常出血。先证者与亲属、性别、突变热点、纤维蛋白原水平和活性：抗原比与血栓形成或出血结局风险无关。总之，我们的研究结果，最大的基因型CD和第一个包括长期的历史，表明先证者与CD及其亲属进行不仅是一个高风险的大出血，包括产后出血，而且血栓事件。
We conducted a multicenter study of 101 patients with congenital dysfibrinogenemia (CD) to characterize the incidence of hemorrhagic and thrombotic events as well as complications of pregnancy and surgery. At the time of diagnosis, 10.9% and 13.9% had experienced major bleeding and thrombotic events, respectively. During a mean followup of 8.8 years after CD diagnosis, the incidence of major bleeding and thrombotic events was 2.5 and 18.7 per 1000 patient-years, respectively, with estimated cumulative incidences at age 50 years of 19.2% and 30.1%. We identified 111 pregnancies with an overall incidence of spontaneous abortions and postpartum hemorrhage of 19.8% and 21.4%, respectively. The risk of postpartum hemorrhage was associated with a previously identified bleeding phenotype (odds ratio, 5.8; 95% Cl, 1.2 to 28.0). Among 137 surgical procedures analyzed, 9 (6.5%) were complicated by abnormal bleeding. Propositi vs relatives, sex, mutation hotspots, fibrinogen levels, and activity:antigen ratios were not associated with the risk of thrombotic or bleeding outcomes. In conclusion, the results of our study, the largest in genotyped CD and the first including long-term history, indicate that propositi with CD and their relatives carry not only a high risk of major bleeding, including postpartum hemorrhage, but also of thrombotic event.