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妊娠期先天性异常纤维蛋白原血症的管理:一个具有挑战性的病例

Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case.

作者信息

Langer Megan, Manire Meredith, Clarkson Matthew, Samhouri Yazan, Shah Deep, Bhagavatula Rama

机构信息

Division of Hematology and Cellular Therapy Allegheny Health Network Cancer Institute Pittsburgh Pennsylvania USA.

Department of Obstetrics and Gynecology West Penn Hospital Allegheny Health Network Pittsburgh Pennsylvania USA.

出版信息

Res Pract Thromb Haemost. 2021 Nov 16;5(8):e12619. doi: 10.1002/rth2.12619. eCollection 2021 Dec.

Abstract

Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a therapeutic approach to prevent hemorrhage and fetal loss in pregnant women with CD. In this case report, we present a 28-year-old pregnant woman who sought testing for CD given her family history. She denied any current or previous bleeding symptoms. Laboratory testing confirmed the diagnosis of CD. She was treated with FRT and prophylactic anticoagulation starting in her third trimester. She had preterm labor that prompted an urgent cesarean section with FRT support. This case adds to the sparse literature about fibrinogen disorders in pregnancy, and highlights the benefits, safety, and tolerability of FRT and prophylactic anticoagulation in pregnant women with CD. Finally, it emphasizes the importance of a multidisciplinary team approach for an uneventful delivery.

摘要

无纤维蛋白原血症和先天性异常纤维蛋白原血症(CD)是罕见病症,关于其恰当管理的可用信息有限。既往病例报告已证明纤维蛋白原替代疗法(FRT)作为一种治疗方法,可安全有效地预防患有CD的孕妇出血和胎儿丢失。在本病例报告中,我们介绍了一名28岁的孕妇,因其家族病史而寻求CD检测。她否认目前或既往有任何出血症状。实验室检测确诊为CD。她在孕晚期开始接受FRT和预防性抗凝治疗。她出现早产,促使在FRT支持下紧急剖宫产。本病例补充了关于孕期纤维蛋白原疾病的稀少文献,并突出了FRT和预防性抗凝在患有CD的孕妇中的益处、安全性和耐受性。最后,它强调了多学科团队方法对于顺利分娩的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f2/8595964/cd6a9c3b2709/RTH2-5-e12619-g001.jpg

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