Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies
Autor(a) principal: | |
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Data de Publicação: | 2024 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | HU Revista (Online) |
Texto Completo: | https://periodicos.ufjf.br/index.php/hurevista/article/view/43058 |
Resumo: | Introduction: Hereditary Factor XIII (FXIII) deficiency is a rare autosomal recessive hemostatic disorder with an estimated incidence of one case per two million individuals and a higher prevalence in consanguineous marriages. Possible clinical manifestations include intracranial hemorrhage, umbilical cord bleeding at birth, hematoma, spontaneous abortions, and menometrorrhagia. Objective: To highlight the peculiarities of this hemostatic disorder, as well as the recommended management. Case Report: The authors describe two cases of FXIII deficiency with different clinical manifestations. Case 1 presented extensive spontaneous hematoma in the right thigh, and Case 2 had umbilical cord bleeding at birth, requiring transfusion and intracranial hemorrhage; both patients showed normal results in coagulation screening tests. The patients had an O-positive blood type. Diagnostic laboratory tests revealed mild FXIII deficiency in Case 1 and severe deficiency in Case 2. The patient in Case 1 is under regular control and follow-up, while the patient in Case 2 is on a monthly prophylactic regimen with FXIII infusion. Conclusion: The diagnosis of FXIII deficiency in patients with significant bleeding should be considered even if coagulation tests are normal. The Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis has established an algorithm for laboratory diagnosis and identification of different forms of FXIII deficiency. Quantitative determination of FXIII activity, antigenic assays, and molecular studies are necessary. |
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Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathiesFactor XIII deficiency, a rare coagulopathy: case reports: Rare coagulopathiesFactor XIII Deficiency, Coagulation Protein Disorders, Blood Coagulation Disorders, Inherited, Factor XIIIDeficiência do Fator XIIITranstornos de Proteínas de CoagulaçãoTranstornos Herdados da Coagulação SanguíneaFator XIIIIntroduction: Hereditary Factor XIII (FXIII) deficiency is a rare autosomal recessive hemostatic disorder with an estimated incidence of one case per two million individuals and a higher prevalence in consanguineous marriages. Possible clinical manifestations include intracranial hemorrhage, umbilical cord bleeding at birth, hematoma, spontaneous abortions, and menometrorrhagia. Objective: To highlight the peculiarities of this hemostatic disorder, as well as the recommended management. Case Report: The authors describe two cases of FXIII deficiency with different clinical manifestations. Case 1 presented extensive spontaneous hematoma in the right thigh, and Case 2 had umbilical cord bleeding at birth, requiring transfusion and intracranial hemorrhage; both patients showed normal results in coagulation screening tests. The patients had an O-positive blood type. Diagnostic laboratory tests revealed mild FXIII deficiency in Case 1 and severe deficiency in Case 2. The patient in Case 1 is under regular control and follow-up, while the patient in Case 2 is on a monthly prophylactic regimen with FXIII infusion. Conclusion: The diagnosis of FXIII deficiency in patients with significant bleeding should be considered even if coagulation tests are normal. The Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis has established an algorithm for laboratory diagnosis and identification of different forms of FXIII deficiency. Quantitative determination of FXIII activity, antigenic assays, and molecular studies are necessary.Introduction: Hereditary Factor XIII (FXIII) deficiency is a rare autosomal recessive hemostatic disorder with an estimated incidence of one case per two million individuals and a higher prevalence in descendants of consanguineous relationships. Possible clinical manifestations include intracranial hemorrhage, umbilical cord bleeding at birth, hematoma, spontaneous abortions, and menometrorrhagia. Objective: To highlight the peculiarities of this hemostatic disorder, as well as the recommended management. Case Report: The authors describe two cases of FXIII deficiency with different hemorrhagic manifestations. Case 1 presented extensive spontaneous hematoma in the right thigh, while Case 2 had umbilical cord bleeding at birth and intracranial hemorrhage, requiring hemotherapy support. Both patients had normal results in screening laboratory tests for coagulation disorders. Coagulation factor serum levels and diagnostic assessments identified mild Factor XIII deficiency in Case 1 and severe deficiency in Case 2. The patient in Case 1 is under regular control and follow-up, while the patient in Case 2 is on a monthly prophylactic regimen with FXIII infusion. Conclusion: The diagnosis of FXIII deficiency in patients with significant bleeding should be considered if screening coagulation tests are normal. The Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis has established an algorithm for laboratory diagnosis and identification of different forms of FXIII deficiency. Quantitative determination of FXIII activity, antigenic assays, and molecular studies are necessary.Editora UFJF2024-01-22info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelCasapplication/pdfhttps://periodicos.ufjf.br/index.php/hurevista/article/view/4305810.34019/1982-8047.2023.v49.43058HU Revista; v. 49 (2023); 1-61982-80470103-3123reponame:HU Revista (Online)instname:Universidade Federal de Juiz de Fora (UFJF)instacron:UFJFporhttps://periodicos.ufjf.br/index.php/hurevista/article/view/43058/27115Copyright (c) 2024 Daniela de Oliveira Werneck Rodrigues, Isabella Boa Sorte Costa, Samara de Paula Silva Souza, Amanda do Carmo Gusmãohttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessde Oliveira Werneck Rodrigues, Daniela Boa Sorte Costa, Isabellade Paula Silva Souza, Samarado Carmo Gusmão, Amanda2023-12-22T15:18:49Zoai:periodicos.ufjf.br:article/43058Revistahttps://periodicos.ufjf.br/index.php/hurevistaPUBhttps://periodicos.ufjf.br/index.php/hurevista/oairevista.hurevista@ufjf.edu.br1982-80470103-3123opendoar:2023-12-22T15:18:49HU Revista (Online) - Universidade Federal de Juiz de Fora (UFJF)false |
dc.title.none.fl_str_mv |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies Factor XIII deficiency, a rare coagulopathy: case reports: Rare coagulopathies |
title |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies |
spellingShingle |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies de Oliveira Werneck Rodrigues, Daniela Factor XIII Deficiency, Coagulation Protein Disorders, Blood Coagulation Disorders, Inherited, Factor XIII Deficiência do Fator XIII Transtornos de Proteínas de Coagulação Transtornos Herdados da Coagulação Sanguínea Fator XIII |
title_short |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies |
title_full |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies |
title_fullStr |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies |
title_full_unstemmed |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies |
title_sort |
Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies |
author |
de Oliveira Werneck Rodrigues, Daniela |
author_facet |
de Oliveira Werneck Rodrigues, Daniela Boa Sorte Costa, Isabella de Paula Silva Souza, Samara do Carmo Gusmão, Amanda |
author_role |
author |
author2 |
Boa Sorte Costa, Isabella de Paula Silva Souza, Samara do Carmo Gusmão, Amanda |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
de Oliveira Werneck Rodrigues, Daniela Boa Sorte Costa, Isabella de Paula Silva Souza, Samara do Carmo Gusmão, Amanda |
dc.subject.por.fl_str_mv |
Factor XIII Deficiency, Coagulation Protein Disorders, Blood Coagulation Disorders, Inherited, Factor XIII Deficiência do Fator XIII Transtornos de Proteínas de Coagulação Transtornos Herdados da Coagulação Sanguínea Fator XIII |
topic |
Factor XIII Deficiency, Coagulation Protein Disorders, Blood Coagulation Disorders, Inherited, Factor XIII Deficiência do Fator XIII Transtornos de Proteínas de Coagulação Transtornos Herdados da Coagulação Sanguínea Fator XIII |
description |
Introduction: Hereditary Factor XIII (FXIII) deficiency is a rare autosomal recessive hemostatic disorder with an estimated incidence of one case per two million individuals and a higher prevalence in consanguineous marriages. Possible clinical manifestations include intracranial hemorrhage, umbilical cord bleeding at birth, hematoma, spontaneous abortions, and menometrorrhagia. Objective: To highlight the peculiarities of this hemostatic disorder, as well as the recommended management. Case Report: The authors describe two cases of FXIII deficiency with different clinical manifestations. Case 1 presented extensive spontaneous hematoma in the right thigh, and Case 2 had umbilical cord bleeding at birth, requiring transfusion and intracranial hemorrhage; both patients showed normal results in coagulation screening tests. The patients had an O-positive blood type. Diagnostic laboratory tests revealed mild FXIII deficiency in Case 1 and severe deficiency in Case 2. The patient in Case 1 is under regular control and follow-up, while the patient in Case 2 is on a monthly prophylactic regimen with FXIII infusion. Conclusion: The diagnosis of FXIII deficiency in patients with significant bleeding should be considered even if coagulation tests are normal. The Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis has established an algorithm for laboratory diagnosis and identification of different forms of FXIII deficiency. Quantitative determination of FXIII activity, antigenic assays, and molecular studies are necessary. |
publishDate |
2024 |
dc.date.none.fl_str_mv |
2024-01-22 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion RelCas |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://periodicos.ufjf.br/index.php/hurevista/article/view/43058 10.34019/1982-8047.2023.v49.43058 |
url |
https://periodicos.ufjf.br/index.php/hurevista/article/view/43058 |
identifier_str_mv |
10.34019/1982-8047.2023.v49.43058 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://periodicos.ufjf.br/index.php/hurevista/article/view/43058/27115 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Editora UFJF |
publisher.none.fl_str_mv |
Editora UFJF |
dc.source.none.fl_str_mv |
HU Revista; v. 49 (2023); 1-6 1982-8047 0103-3123 reponame:HU Revista (Online) instname:Universidade Federal de Juiz de Fora (UFJF) instacron:UFJF |
instname_str |
Universidade Federal de Juiz de Fora (UFJF) |
instacron_str |
UFJF |
institution |
UFJF |
reponame_str |
HU Revista (Online) |
collection |
HU Revista (Online) |
repository.name.fl_str_mv |
HU Revista (Online) - Universidade Federal de Juiz de Fora (UFJF) |
repository.mail.fl_str_mv |
revista.hurevista@ufjf.edu.br |
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1796798239247171584 |