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Semin Thromb Hemost 2016; 42(04): 366-374
DOI: 10.1055/s-0036-1571339
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Clinical Features and Management of Congenital Fibrinogen Deficiencies

Alessandro Casini
1   Division of Angiology and Haemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland
,
Philippe de Moerloose
1   Division of Angiology and Haemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland
,
Marguerite Neerman-Arbez
2   Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland
› Author Affiliations
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Publication History

Publication Date:
28 March 2016 (online)

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Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip ArthroplastySemin Thromb Hemost 2016; 42(06): 689-692
DOI: 10.1055/s-0036-1585079

Abstract

Congenital fibrinogen disorders are rare diseases affecting either the quantity (afibrinogenemia and hypofibrinogenemia) or the quality (dysfibrinogenemia) or both (hypodysfibrinogenemia) of plasmatic fibrinogen. Afibrinogenemia is often diagnosed at birth following prolonged umbilical cord bleeding and is characterized by spontaneous bleeding in all tissues, while hypofibrinogenemic patients are more often asymptomatic. Spontaneous spleen ruptures, painful bone cysts, cardiovascular events, and intrahepatic inclusions can complicate the clinical course of patients with quantitative fibrinogen disorders. Clinical manifestations of dysfibrinogenemia are very heterogeneous, from absence of symptoms to major bleeding or thrombosis, chronic thromboembolic pulmonary hypertension, and renal amyloidosis. Hypodysfibrinogenemic patients can suffer from both major bleeding and recurrent thrombosis. Pregnancy of women with congenital fibrinogen disorders is a high-risk situation. Owing to the absence of controlled randomized studies, clinical management is mainly based on expert consensus. For the treatment and/or the prevention of bleeding, plasma-derived fibrinogen concentrates are the optimal choice. Treatment of thrombosis may be challenging. More specifically, management strategies should be tailored to each patient, taking the personal and familial history of bleeding and thrombosis, the genotype, and the specific clinical situation into account.

Keywords

congenital fibrinogen disorders - afibrinogenemia - hypofibrinogenemia - dysfibrinogenemia - hypodysfibrinogenemia - bleeding - thrombosis - fibrinogen concentrate
 

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