Hospices Civils de Lyon, Unité Hémostase Clinique, Hôpital Louis Pradel, Hospices Civils de Lyon, Bron, France.
Department of Medical Biology, Military Medical Center Percy, Clamart, France.
Thromb Res. 2020 Jul;191:22-25. doi: 10.1016/j.thromres.2020.04.010. Epub 2020 Apr 21.
Congenital factor XIII deficiency is a very rare bleeding disorder affecting 33 patients in France. Besides its role in fibrin clot stabilization, factor XIII is involved in placental attachment. Fetal miscarriages represent a frequent and concerning issue for these patients. The aim of the present study was to describe clinical characteristics of women presenting severe congenital FXIII deficiency in France, to focus on gynecological and obstetrical events, and to report the management of these rare situations.
We conducted a retrospective study in the French Hemophilia Comprehensive Care and Clinical Hemostasis Centers. Women between 15 and 65 years with factor XIII activity <10 IU dL were included. Biological, clinical and therapeutic events that occurred to these patients during their gynecological and obstetrical period were recorded.
Among 31 centers, eleven patients were included. The median age at diagnosis was 1.5 years (range: 0-35), and at inclusion it was 30 years (range: 15-63). Fetal miscarriage was the primary manifestations in 2 (18%) patients, the remaining were diagnosed during hemorrhage. Menorrhagias were reported by 2 women (27%), 13 pregnancies were reported by 9 women including one abortion. Every pregnancy was conducted under factor XIII substitution, no hemorrhagic episode was reported. Four patients (36%) experienced at least one fetal miscarriage with a total amount of 30 miscarriages with 6 occurring during substitution.
Altogether, our data confirmed the high incidence of miscarriage in women with factor XIII deficiency. Good outcome of pregnancies required prophylaxis in accordance with international guidelines.
先天性因子 XIII 缺乏症是一种罕见的出血性疾病，影响了法国的 33 名患者。除了在纤维蛋白凝块稳定中的作用外，因子 XIII 还参与胎盘附着。胎儿流产是这些患者经常面临的令人担忧的问题。本研究的目的是描述法国患有严重先天性 FXIII 缺乏症的女性的临床特征，重点关注妇科和产科事件，并报告这些罕见情况的处理方法。
我们在法国血友病综合护理和临床止血中心进行了一项回顾性研究。纳入因子 XIII 活性<10IU/dL 的 15-65 岁女性患者。记录这些患者在妇科和产科期间发生的生物学、临床和治疗事件。
在 31 个中心中，有 11 名患者入选。诊断时的中位年龄为 1.5 岁（范围：0-35），纳入时为 30 岁（范围：15-63）。2 名（18%）患者的主要表现为胎儿流产，其余患者在出血时诊断。2 名女性（27%）报告有月经过多，9 名女性报告了 13 次妊娠，其中 1 次流产。每次妊娠均在因子 XIII 替代物的情况下进行，未报告出血事件。4 名患者（36%）至少经历过一次胎儿流产，共有 30 次流产，其中 6 次发生在替代物治疗期间。
总之，我们的数据证实了因子 XIII 缺乏症女性流产的高发生率。根据国际指南进行预防治疗可获得良好的妊娠结局。
