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

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, o...

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Autores principales:	Tomas Simurda, Rosanna Asselta, Jana Zolkova, Monika Brunclikova, Miroslava Dobrotova, Zuzana Kolkova, Dusan Loderer, Ingrid Skornova, Jan Hudecek, Zora Lasabova, Jan Stasko, Peter Kubisz
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	afibrinogenemia hypofibrinogenemia genetic testing global coagulation assays bleeding thrombosis Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/1b2962a9071f4dddb96c55543b50554b
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spelling	oai:doaj.org-article:1b2962a9071f4dddb96c55543b50554b2021-11-25T17:22:00ZCongenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management10.3390/diagnostics111121402075-4418https://doaj.org/article/1b2962a9071f4dddb96c55543b50554b2021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4418/11/11/2140https://doaj.org/toc/2075-4418Congenital 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.Tomas SimurdaRosanna AsseltaJana ZolkovaMonika BrunclikovaMiroslava DobrotovaZuzana KolkovaDusan LodererIngrid SkornovaJan HudecekZora LasabovaJan StaskoPeter KubiszMDPI AGarticleafibrinogenemiahypofibrinogenemiagenetic testingglobal coagulation assaysbleedingthrombosisMedicine (General)R5-920ENDiagnostics, Vol 11, Iss 2140, p 2140 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	afibrinogenemia hypofibrinogenemia genetic testing global coagulation assays bleeding thrombosis Medicine (General) R5-920
spellingShingle	afibrinogenemia hypofibrinogenemia genetic testing global coagulation assays bleeding thrombosis Medicine (General) R5-920 Tomas Simurda Rosanna Asselta Jana Zolkova Monika Brunclikova Miroslava Dobrotova Zuzana Kolkova Dusan Loderer Ingrid Skornova Jan Hudecek Zora Lasabova Jan Stasko Peter Kubisz Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
description	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.
format	article
author	Tomas Simurda Rosanna Asselta Jana Zolkova Monika Brunclikova Miroslava Dobrotova Zuzana Kolkova Dusan Loderer Ingrid Skornova Jan Hudecek Zora Lasabova Jan Stasko Peter Kubisz
author_facet	Tomas Simurda Rosanna Asselta Jana Zolkova Monika Brunclikova Miroslava Dobrotova Zuzana Kolkova Dusan Loderer Ingrid Skornova Jan Hudecek Zora Lasabova Jan Stasko Peter Kubisz
author_sort	Tomas Simurda
title	Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
title_short	Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
title_full	Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
title_fullStr	Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
title_full_unstemmed	Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
title_sort	congenital afibrinogenemia and hypofibrinogenemia: laboratory and genetic testing in rare bleeding disorders with life-threatening clinical manifestations and challenging management
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/1b2962a9071f4dddb96c55543b50554b
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Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

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