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Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report

BACKGROUND: Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. CASE REPORT: A 7-year-old male child of African origin experienced recurrent nasal bleeding since 3 years of age and recurrent swelling of the joints that was remarkable at t...

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Autores principales: Salum, Hajaj Mohamed, Lukumay, Joyce, Muze, Kandi, Swai, Peter, Kindole, Christina, Kipasika, Honesta, Apollo, Monica, Chirande, Lulu, Furia, Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103398/
https://www.ncbi.nlm.nih.gov/pubmed/37055867
http://dx.doi.org/10.1186/s13256-023-03884-3
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author Salum, Hajaj Mohamed
Lukumay, Joyce
Muze, Kandi
Swai, Peter
Kindole, Christina
Kipasika, Honesta
Apollo, Monica
Chirande, Lulu
Furia, Francis
author_facet Salum, Hajaj Mohamed
Lukumay, Joyce
Muze, Kandi
Swai, Peter
Kindole, Christina
Kipasika, Honesta
Apollo, Monica
Chirande, Lulu
Furia, Francis
author_sort Salum, Hajaj Mohamed
collection PubMed
description BACKGROUND: Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. CASE REPORT: A 7-year-old male child of African origin experienced recurrent nasal bleeding since 3 years of age and recurrent swelling of the joints that was remarkable at the age of 5–6 years. He received multiple blood transfusions and has been managed as a patient with hemophilia until he presented to our facility. Reviewed evaluation of the patient revealed abnormal prothrombin and normal activated partial thromboplastin time, FVII analysis showed activity level of less than 1%, and the diagnosis of FVII deficiency was made. The patient was treated with fresh frozen plasma, vitamin K injection, and tranexamic tablets. CONCLUSION: Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders.
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spelling pubmed-101033982023-04-15 Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report Salum, Hajaj Mohamed Lukumay, Joyce Muze, Kandi Swai, Peter Kindole, Christina Kipasika, Honesta Apollo, Monica Chirande, Lulu Furia, Francis J Med Case Rep Case Report BACKGROUND: Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. CASE REPORT: A 7-year-old male child of African origin experienced recurrent nasal bleeding since 3 years of age and recurrent swelling of the joints that was remarkable at the age of 5–6 years. He received multiple blood transfusions and has been managed as a patient with hemophilia until he presented to our facility. Reviewed evaluation of the patient revealed abnormal prothrombin and normal activated partial thromboplastin time, FVII analysis showed activity level of less than 1%, and the diagnosis of FVII deficiency was made. The patient was treated with fresh frozen plasma, vitamin K injection, and tranexamic tablets. CONCLUSION: Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders. BioMed Central 2023-04-14 /pmc/articles/PMC10103398/ /pubmed/37055867 http://dx.doi.org/10.1186/s13256-023-03884-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Salum, Hajaj Mohamed
Lukumay, Joyce
Muze, Kandi
Swai, Peter
Kindole, Christina
Kipasika, Honesta
Apollo, Monica
Chirande, Lulu
Furia, Francis
Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
title Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
title_full Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
title_fullStr Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
title_full_unstemmed Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
title_short Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
title_sort factor vii deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103398/
https://www.ncbi.nlm.nih.gov/pubmed/37055867
http://dx.doi.org/10.1186/s13256-023-03884-3
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