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Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report

This case report delves into an uncommon coagulopathy recognized as factor V and VIII deficiency (F5F8D), which follows an autosomal recessive inheritance pattern. The focal point of this study is a five-year-old Asian female who was initially presented with complaints of hematuria, epistaxis, and b...

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Autores principales: Rahman, Tanzeel U, Salih, Noman, Rashid, Nasar, Ahmad, Maaz, Khan, Asad, Yousufi, Zainab
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589818/
https://www.ncbi.nlm.nih.gov/pubmed/37868465
http://dx.doi.org/10.7759/cureus.45663
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author Rahman, Tanzeel U
Salih, Noman
Rashid, Nasar
Ahmad, Maaz
Khan, Asad
Yousufi, Zainab
author_facet Rahman, Tanzeel U
Salih, Noman
Rashid, Nasar
Ahmad, Maaz
Khan, Asad
Yousufi, Zainab
author_sort Rahman, Tanzeel U
collection PubMed
description This case report delves into an uncommon coagulopathy recognized as factor V and VIII deficiency (F5F8D), which follows an autosomal recessive inheritance pattern. The focal point of this study is a five-year-old Asian female who was initially presented with complaints of hematuria, epistaxis, and bruises all over the body. Comprehensive haematological and coagulation profiling unveiled indicators such as diminished haemoglobin levels and prolonged activated partial thromboplastin time (aPTT), prothrombin time (PT), and international normalized ratio (INR). Subsequent factor assays demonstrated noteworthy reductions in both factor V and factor VIII activities, unequivocally confirming the existence of a concurrent deficiency in these crucial factors. Notably, patients exhibiting elongated INR, PT, and aPTT values necessitate a comprehensive assessment for potential combined deficits in factors V and VIII when formulating a differential diagnosis. In cases where substantial bleeding manifestations are evident during the patient's presentation, it is prudent to exercise judicious medical management strategies.
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spelling pubmed-105898182023-10-22 Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report Rahman, Tanzeel U Salih, Noman Rashid, Nasar Ahmad, Maaz Khan, Asad Yousufi, Zainab Cureus Pediatrics This case report delves into an uncommon coagulopathy recognized as factor V and VIII deficiency (F5F8D), which follows an autosomal recessive inheritance pattern. The focal point of this study is a five-year-old Asian female who was initially presented with complaints of hematuria, epistaxis, and bruises all over the body. Comprehensive haematological and coagulation profiling unveiled indicators such as diminished haemoglobin levels and prolonged activated partial thromboplastin time (aPTT), prothrombin time (PT), and international normalized ratio (INR). Subsequent factor assays demonstrated noteworthy reductions in both factor V and factor VIII activities, unequivocally confirming the existence of a concurrent deficiency in these crucial factors. Notably, patients exhibiting elongated INR, PT, and aPTT values necessitate a comprehensive assessment for potential combined deficits in factors V and VIII when formulating a differential diagnosis. In cases where substantial bleeding manifestations are evident during the patient's presentation, it is prudent to exercise judicious medical management strategies. Cureus 2023-09-21 /pmc/articles/PMC10589818/ /pubmed/37868465 http://dx.doi.org/10.7759/cureus.45663 Text en Copyright © 2023, Rahman et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Rahman, Tanzeel U
Salih, Noman
Rashid, Nasar
Ahmad, Maaz
Khan, Asad
Yousufi, Zainab
Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report
title Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report
title_full Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report
title_fullStr Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report
title_full_unstemmed Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report
title_short Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report
title_sort concurrent deficiency of factor v and factor viii in a pediatric patient: a case report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589818/
https://www.ncbi.nlm.nih.gov/pubmed/37868465
http://dx.doi.org/10.7759/cureus.45663
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