Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death

Zhang, Yan; Zuo, Xiaohang; Teng, Yue

doi:10.1177/1076029620912819

Cited by 13 publications

(19 citation statements)

References 58 publications

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“…Paradoxically, patients with afibrinogenemia can experience severe, spontaneous, or repeated thromboembolic complications [1,27,[43][44][45][46]. Arterial and also venous thromboembolic episodes in various locations have been reported: thrombosis in peripheral arteries, recurrent myocardial infarction [47], thrombosis of abdominal aorta with peripheral embolization, cerebral [29] or hepatic vein thrombosis [48], or venous thrombosis after the delivery [2,49,50].…”

Section: Epidemiology and Clinical Featuresmentioning

confidence: 99%

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

et al. 2021

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Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous, being associated with bleeding, thrombosis, or absence of symptoms. Afibrinogenemia and hypofibrinogenemia are the consequence of mutations in the homozygous, heterozygous, or compound heterozygous state in one of three genes encoding the fibrinogen chains, which can affect the synthesis, assembly, intracellular processing, stability, or secretion of fibrinogen. In addition to standard coagulation tests depending on the formation of fibrin, diagnostics also includes global coagulation assays, which are effective in monitoring the management of replacement therapy. Genetic testing is a key point for confirming the clinical diagnosis. The identification of the precise genetic mutations of congenital fibrinogen disorders is of value to permit early testing of other at risk persons and better understand the correlation between clinical phenotype and genotype. Management of patients with afibrinogenemia is particularly challenging since there are no data from evidence-based medicine studies. Fibrinogen concentrate is used to treat bleeding, whereas for the treatment of thrombotic complications, administered low-molecular-weight heparin is most often. This review deals with updated information about afibrinogenemia and hypofibrinogenemia, contributing to the early diagnosis and effective treatment of these disorders.

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Section: Epidemiology and Clinical Featuresmentioning

confidence: 99%

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

et al. 2021

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“…49 Most patients with rare IBDs tolerate pregnancy well except for fibrinogen or factor XIII deficiency, where there is increased risk for miscarriage or placental abruption. 9,49,[51][52][53][54] PPH rates are high in IBDs even with treatment, 55 and factor levels also may not predict bleeding well in IBDs. In hemophilia A, levels in females are poor predictors of bleeding generally and in pregnancy, including some individuals bleeding excessively at levels ≥50.…”

Section: Discussion: Preg Nan C Y In Ib Dsmentioning

confidence: 99%

JTH in Clinic ‐ Obstetric bleeding: VWD and other inherited bleeding disorders

Johnsen

MacKinnon²

2022

Journal of Thrombosis and Haemostasis

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Individuals with inherited bleeding disorders (IBDs) have higher bleeding risk during pregnancy, childbirth, and the postpartum period. Clinical management requires recognition of the IBD as high risk for postpartum hemorrhage and a personalized multidisciplinary approach that includes the patient in decision making. When the fetus is known or at risk to inherit a bleeding disorder, fetal and neonatal bleeding risk also need to be considered. In pregnant IBD patients, it is common for providers to need to make decisions in the absence of high level of certainty evidence. We here present the case of a pregnant von Willebrand disease patient that reached multiple decision points where there is currently clinical ambiguity due to a lack of high level of certainty evidence. For each stage of her care, from diagnosis to the postpartum period, we discuss current literature and describe our approach. This is followed by a brief overview of considerations in other IBDs and pregnancy.

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“…Due to their specific physiological characteristics, female patients with congenital hypofibrinogenemia may present with spontaneous recurrent abortion, menorrhagia, antepartum and postpartum haemorrhage [11,12].…”

Section: Discussionmentioning

confidence: 99%

“…Patients with afibrinogenemia have been shown to have successful pregnancies if treated with fibrinogen concentrate or cryoprecipitate [8,11,14,17,18].…”

Section: Discussionmentioning

confidence: 99%

Afibrinogenemia Diagnosed During Pregnancy Successfully Managed with Targeted Cryoprecipitate Transfusion: A Case Report

Shajan

George

Gilvaz

et al. 2020

J Obstet Gynecol India

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Background We report a case of afibrinogenemia in a lady, which was detected for the first time during her pregnancy. Case A 24-year-old G4A3 was referred as a case of vaginal bleeding, after a cervical cerclage at 14 weeks of gestation. Elastometry targeted correction of coagulopathy was done initially, and targeted cryoprecipitate transfusion was done to maintain her gestation. She underwent induced vaginal delivery at 34 weeks of gestation. Fourteen days postpartum, the mother and child were discharged home well. Conclusion Coagulation factor deficiency should be considered as a rare cause for RPL. Serum fibrinogen level of 50-100 mg/ dl during pregnancy seems to be a safe and adequate target to maintain in pregnant patients with afibrinogenemia.

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Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death

Cited by 13 publications

References 58 publications

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

JTH in Clinic ‐ Obstetric bleeding: VWD and other inherited bleeding disorders

Afibrinogenemia Diagnosed During Pregnancy Successfully Managed with Targeted Cryoprecipitate Transfusion: A Case Report

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