Hospices Civils de Lyon - Unite d'Hemostase Clinique, Hôpital Cardiologique Louis Pradel, Lyon, France.
AP-HM, FranceCoag, Marseille, France.
Br J Haematol. 2020 Jan;188(2):317-320. doi: 10.1111/bjh.16133. Epub 2019 Aug 14.
This FranceCoag network study assessed 33 patients with congenital factor XIII (FXIII) deficiency presenting FXIII levels <10 iu/dl. Diagnosis was based on abnormal bleeding in 29 patients, a positive family history in 2, recurrent miscarriages in 1 and was fortuitous in 1. Eighteen patients (62·1%) presented life-threatening umbilical or intracranial haemorrhages (ICH). Seven of the 15 patients who experienced ICH were diagnosed but untreated, including 3 with secondary neurological sequelae. All pregnancies without prophylaxis (26/26) led to miscarriages versus 3/16 with prophylaxis. In patients exhibiting FXIII levels <10 iu/dl, prophylaxis could be discussed at diagnosis and at pregnancy. Further controlled prospective studies are needed.
这项法国凝血因子 XIII（FXIII）网络研究评估了 33 例 FXIII 水平 <10 iu/dl 的先天性 FXIII 缺乏症患者。诊断依据为 29 例患者存在异常出血，2 例存在阳性家族史，1 例存在复发性流产，1 例为偶然发现。18 例患者（62.1%）发生危及生命的脐部或颅内出血（ICH）。15 例发生 ICH 的患者中，7 例未经治疗，其中 3 例存在继发性神经后遗症。未行预防治疗的所有妊娠（26/26）均导致流产，而预防治疗的 16 例妊娠中仅 3 例流产。对于 FXIII 水平 <10 iu/dl 的患者，可在诊断时和妊娠时讨论预防治疗。需要进一步开展对照前瞻性研究。
