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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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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. |
format | Online Article Text |
id | pubmed-6778902 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
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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