Factor XIII deficiency – A rare coagulopathy: Case Reports: Rare coagulopathies

• Autor(a) principal: de Oliveira Werneck Rodrigues, Daniela
• Data de Publicação: 2024
• Outros Autores: Boa Sorte Costa, Isabella, de Paula Silva Souza, Samara, do Carmo Gusmão, Amanda
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: HU Revista (Online)
• Texto Completo: https://periodicos.ufjf.br/index.php/hurevista/article/view/43058
• 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

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.