Impact of Rare Bleeding Disorders during Pregnancy on Maternal and Fetal Outcomes: Review of 29 Pregnancies at a Single Center / Impacto de distúrbios hemorrágicos raros durante a gestação na mãe e no feto: revisão de 29 gestações em um único centro

ABSTRACT Objective: This study aims to give information about the relationship between different types of factor deficiencies and maternal/obstetric outcomes. Methods We retrospectively reviewed the medical records of eight women with factor deficiency disorders. The demographic and clinical features of the patients after their last pregnancies were registered retrospectively. Results: There were 29 pregnancies among the 8 patients. The spontaneous abortion rate was relatively high in two patients with factor XIII deficiency (80% and 57.1%) compared with the other factor deficiency groups. There were 16 births, which included 1 set of twins, and 2 deaths (1 stillbirth and 1 postpartum exitus occurred in the same patient). Intrauterine growth restriction was noted in five cases; four of these occurred in factor X deficiency cases. The mean decrease in hemoglobin level of all patients after birth was 1.7 g/dL (range, 0.2-3.6 g/dL). Red blood cell transfusion was required only in one case of factor XIII deficiency. Conclusions: There is currently no consensus on the pregnancy management of women with factor deficiencies because of the limited knowledge due to the rarity of such disorders. Labor should be managed in a dedicated unit with a team consisting of an obstetrician, a hematologist, an anesthesiologist, a midwife, and a pediatrician to minimalize the complications.

RESUMO Objetivo: O presente estudo objetiva fornecer informações sobre a relação entre diferentes tipos de deficiências de fator e resultados obstétricos e maternais. Métodos Análise retrospectiva de registros médicos de oito mulheres com deficiências de fator. Dados demográficos e clínicos das pacientes após sua última gestação foram obtidos. Resultados: Vinte e nove gestações ocorreram entre as oito pacientes. As taxas de abortos espontâneos foram relativamente altas em duas pacientes com deficiência de fator XIII (80% e 57,1%) se comparadas aos demais grupos de deficiências de fator. Ocorreram dezesseis nascimentos, sendo que um deles foi o de um par de gêmeos, e dois óbitos (um natimorto e um pós-parto na mesma paciente). Restrição de crescimento intrauterino foi identificada em cinco casos, sendo quatro destes com deficiência de fator X. A principal baixa em nível de hemoglobina entre todas as pacientes após o parto foi de 1,7 g/dL (variação, 0,2-3,6 g/dL). Transfusão de hemácias foi necessária apenas em um caso com deficiência de fator XIII. Conclusão: Não há consenso atualmente para o manejo de gestantes com deficiências de fator em função do conhecimento limitado, dada a raridade de tais condições. O parto deve ocorrer em uma unidade específica com uma equipe composta de obstetra, hematologista, anestesista, parteira, e pediatra para minimizar as complicações

Clinical analysis of gum bleeding caused by acquired factor XIII deficiency disease / 实用口腔医学杂志

Acquired factor XIII deficiency disease is rare.One case with gum bleeding as the first symptom caused by acquired factor XIII de-ficiency disease was encountered.The case was analyzed and relevant literatures were reviewed.

Riesgo de sangrado y complicaciones ginecoobstétricas en una paciente con déficit de factor XIII. Presentación de un caso y revisión de la literatura / Risk of bleeding and gyneconstetric complications in a patient with factor XIII deficiency. Case report and literature review

La deficiencia de factor XIII de la coagulación es un trastorno raro de la coagulación, entre los que están la afibrinogenemis y los de factor II, V, V+VIII, VII, X y XI. Estos son son anormalidades de la hemostasia con herencia autosómica recesiva; su prevalencia es de 1 en 500,000 a 2 millones de personas. Por su rareza, tipo y severidad de las hemorragias y lo poco claro que es el defecto molecular y su manejo son un reto diagnóstico y terapéutico. Para algunas de estas deficiencias no existen concentrados del factor de coagulación implicado disponibles, por lo que es necesario utilizar derivados sanguíneos o medicamentos hemostáticos alternativos, lo que puede generar complicaciones, en ocasiones fatales; estas complicaciones pueden ser minimizadas evaluando en cada caso el riesgo de sangrado o de trombosis seleccionando como tratamiento alternativas diferentes a los derivados de la sangre, o incluso no administrando tratamiento en los episodios hemorrágicos leves. En este artículo se describe el caso de una paciente con diagnóstico de déficit de factor XIII que debutó con hematuria y complicaciones ginecoobstétricas; hay historia familiar de consanguinidad y de déficit de factor XIII; recibió manejo con crioprecipitados y antifibrinolíticos y profilaxis con crioprecipitados durante el transcurso de su segundo embarazo, lográndose un producto a término con un parto por cesárea sin complicaciones hemorrágicas o trombóticas.

The factor XIII deficiency is a rare clotting disorder, among which are afibrinogenemia and factor II, V, V+VIII, VII, X and XI ones. These are hemostasis anomalies with autosomal recessive herency; its prevalence is 1 in 500,000 to 2 million people. For its rarity, type and bleeding severity, and its unclear molecular defect, this is a challenge diagnostic and therapeutic effort. The are not clotting factor concentrates available, reason what it is necessary to use blood derivatives or alternative hemostatic agents, which can generate complications, sometimes fatal; these complications can be minimized assessing in each case its bleeding or thrombosis riks to select alternatives to blood or not to do treatment in mild bleeding episodes. This paper describes a case of a women diagnosed with XIII deficiency that began with hematuria and gynocobstetric complications; she received plasma concentrates and antifibrinolytic agents, plus prophylaxis with these products in her second pregnancy, achieving a at term product by caesarean section without any complications.

A Case of Congenital Factor XIII Deficiency Diagnosed by Semiquantitative Method / 대한혈액학회지

Factor XIII (fibrin stabilizing factor) has roles of stabilizing clot and cross-linking fibrin polymer, so the congenital factor XIII deficient patient has clot unstability and delayed bleeding episodes. We experienced a case of 11 years old girl who had experienced delayed umbilical healing, several episodes of intraabdominal and intracranial hemorrhage. But her coagulation screening studies with prothrombin time, aPTT (activated partial thromboplastin time), bleeding time showed normal value at each episode. These findings suggested typical features of congenital factor XIII deficiency. We used semiquantitative method to diagnose Factor XIII deficiency and quantify Factor XIII. We has treated her successfully with prophylactic fresh frozen plasma through plasmapheresis from two donors.