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Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade

Factor X deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. The symptoms of this disorder can occur at any age, although most severe cases appear in childhood. The rarity of this condition has not allowed for the establishment of evidence‐based managem...

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Autores principales: Othman, Tamer, Abdelkarim, Ayman, Huynh, Karen, Uche, An, Lee, Jennifer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778902/
https://www.ncbi.nlm.nih.gov/pubmed/31662920
http://dx.doi.org/10.1155/2019/9657516
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author Othman, Tamer
Abdelkarim, Ayman
Huynh, Karen
Uche, An
Lee, Jennifer
author_facet Othman, Tamer
Abdelkarim, Ayman
Huynh, Karen
Uche, An
Lee, Jennifer
author_sort Othman, Tamer
collection PubMed
description Factor X deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. The symptoms of this disorder can occur at any age, although most severe cases appear in childhood. The rarity of this condition has not allowed for the establishment of evidence‐based management guidelines, and thus, individuals afflicted with factor X deficiency are treated based on limited literature and the opinions of clinicians with extensive experience. In this case report, we discuss a unique presentation of a 38-year-old male who was found to have cardiac tamponade as a result of his newly diagnosed inherited moderate factor X deficiency. This was discovered by obtaining a factor X activity assay and confirmed with genetic testing which demonstrated a missense variant on the factor X gene on chromosome 13. His management involved correction of his factor X deficiency with fresh frozen plasma, a pericardiocentesis, and placement of a pericardial window. He has been asymptomatic and without hemorrhagic episodes for the 10 months following his discharge.
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spelling pubmed-67789022019-10-29 Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade Othman, Tamer Abdelkarim, Ayman Huynh, Karen Uche, An Lee, Jennifer Case Rep Hematol Case Report Factor X deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. The symptoms of this disorder can occur at any age, although most severe cases appear in childhood. The rarity of this condition has not allowed for the establishment of evidence‐based management guidelines, and thus, individuals afflicted with factor X deficiency are treated based on limited literature and the opinions of clinicians with extensive experience. In this case report, we discuss a unique presentation of a 38-year-old male who was found to have cardiac tamponade as a result of his newly diagnosed inherited moderate factor X deficiency. This was discovered by obtaining a factor X activity assay and confirmed with genetic testing which demonstrated a missense variant on the factor X gene on chromosome 13. His management involved correction of his factor X deficiency with fresh frozen plasma, a pericardiocentesis, and placement of a pericardial window. He has been asymptomatic and without hemorrhagic episodes for the 10 months following his discharge. Hindawi 2019-09-25 /pmc/articles/PMC6778902/ /pubmed/31662920 http://dx.doi.org/10.1155/2019/9657516 Text en Copyright © 2019 Tamer Othman et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Othman, Tamer
Abdelkarim, Ayman
Huynh, Karen
Uche, An
Lee, Jennifer
Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
title Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
title_full Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
title_fullStr Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
title_full_unstemmed Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
title_short Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
title_sort inherited moderate factor x deficiency presenting as cardiac tamponade
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778902/
https://www.ncbi.nlm.nih.gov/pubmed/31662920
http://dx.doi.org/10.1155/2019/9657516
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