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Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution

Congenital antithrombin (AT) deficiency represents the form of thrombophilia with the highest thrombotic risk. It is characterized by a heterogeneous clinical presentation, depending mostly on the family history of thrombosis and type of genetic mutation. Inherited AT deficiency promotes idiopathic...

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Autores principales: Marco-Rico, Ana, Marco-Vera, Pascual
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478923/
https://www.ncbi.nlm.nih.gov/pubmed/37674759
http://dx.doi.org/10.2147/JBM.S416355
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author Marco-Rico, Ana
Marco-Vera, Pascual
author_facet Marco-Rico, Ana
Marco-Vera, Pascual
author_sort Marco-Rico, Ana
collection PubMed
description Congenital antithrombin (AT) deficiency represents the form of thrombophilia with the highest thrombotic risk. It is characterized by a heterogeneous clinical presentation, depending mostly on the family history of thrombosis and type of genetic mutation. Inherited AT deficiency promotes idiopathic thrombosis at an early age (even in the pediatric population) and at atypical sites. Therefore, a positive family background necessitates ruling out this high-risk thrombophilia at a young age. Studying first-degree relatives, even if they are asymptomatic, is essential to establish thromboprophylaxis and a proper therapeutic approach in case of thrombosis. Patients with congenital AT deficiency require indefinite anticoagulation owing to the high thrombotic recurrence rate. Here, we present four unrelated cases reported in our institution who were diagnosed with hereditary AT deficiency, with a contrasting clinical evolution.
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spelling pubmed-104789232023-09-06 Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution Marco-Rico, Ana Marco-Vera, Pascual J Blood Med Case Series Congenital antithrombin (AT) deficiency represents the form of thrombophilia with the highest thrombotic risk. It is characterized by a heterogeneous clinical presentation, depending mostly on the family history of thrombosis and type of genetic mutation. Inherited AT deficiency promotes idiopathic thrombosis at an early age (even in the pediatric population) and at atypical sites. Therefore, a positive family background necessitates ruling out this high-risk thrombophilia at a young age. Studying first-degree relatives, even if they are asymptomatic, is essential to establish thromboprophylaxis and a proper therapeutic approach in case of thrombosis. Patients with congenital AT deficiency require indefinite anticoagulation owing to the high thrombotic recurrence rate. Here, we present four unrelated cases reported in our institution who were diagnosed with hereditary AT deficiency, with a contrasting clinical evolution. Dove 2023-09-01 /pmc/articles/PMC10478923/ /pubmed/37674759 http://dx.doi.org/10.2147/JBM.S416355 Text en © 2023 Marco-Rico and Marco-Vera. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Series
Marco-Rico, Ana
Marco-Vera, Pascual
Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
title Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
title_full Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
title_fullStr Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
title_full_unstemmed Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
title_short Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution
title_sort antithrombin deficiency and thrombosis: a wide clinical scenario reported in a single institution
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478923/
https://www.ncbi.nlm.nih.gov/pubmed/37674759
http://dx.doi.org/10.2147/JBM.S416355
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