Acute mesenteric thrombosis in a pregnant woman with Factor V Leiden mutation with a history of in vitro fertilization and embryo transfer: case report and literature review / Trombosis mesentérica aguda en gestante con mutación de Factor V Leiden y antecedentes de fertilización in vitro y transferencia de embriones: reporte de caso y revisión de la literature

Objectives: To report the case of a patient diagnosed with acute mesenteric vein thrombosis (AMVT) associated with Factor V Leiden mutation and a history of in vitro fertilization and embryo transfer and review the literature on risk factors and treatments performed for AMVT. Materials and methods: We reported the case of a 37-year-old pregnant woman. A bibliographic search was carried out in Medline/PubMed and LILACS, filtering by type of language (English and Spanish). Primary cohort studies, cases and controls, case reports and case series were included, which addressed the risk factors associated with the development of acute mesenteric thrombosis during pregnancy and treatments performed. Results: The search identified cases and control studies, case reports and case series related to mesenteric ischemia, pregnancy and in vitro fertilization. The literature reported that the main factors associated with mesenteric ischemia are pregnancy itself, genetic factors, drugs, protein C and protein S deficiency and idiopathic causes. Conclusions: SMV thrombosis is a life-threatening and very rarely seen condition that emerges in pregnancies. The literature suggests that, during gestation, the factors associated with the development of acute mesenteric thrombosis are hypercoagulability induced by pregnancy, the administration of oral estrogen during IVF-ET, and other precipitating factors. More studies are required to better understand the possible additional factors and build better optimal treatment algorithms.

Objetivos: presentar el caso de una paciente diagnosticada con trombosis aguda de la vena mesentérica (TAVM) asociada a mutación de Factor V Leiden y antecedente de fertilización in vitro y transferencia de embriones, y hacer una revisión de la literatura sobre los factores de riesgo y los tratamientos realizados en los casos de TAVM. Materiales y métodos: reporte de un caso de mujer gestante de 37 años. Se realizó una búsqueda bibliográfica en las bases de datos Medline/PubMed y LILACS, filtrando por idioma (inglés y español). Se incluyeron estudios de cohortes primarias, casos y controles, reportes de casos y series de casos que examinaran los factores de riesgo asociados con el desarrollo de trombosis mesentérica aguda durante el embarazo y los tratamientos realizados. Resultados: se identificaron estudios de casos y controles, reportes de casos y series relacionados con isquemia mesentérica, embarazo y fertilización in vitro, y se encontró que los principales factores asociados con isquemia mesentérica son el embarazo mismo, factores genéticos, medicamentos, la deficiencia de proteína C y S, y causas idiopáticas. Conclusiones: la trombosis de la vena mesentérica superior es una condición infrecuente que amenaza la vida y ocurre durante el embarazo. La literatura sugiere que, durante la gestación, los factores asociados con la trombosis mesentérica aguda son la hipercoagulabilidad inducida por el embarazo, la administración de estrógeno oral durante el proceso de fertilización in vitro y transferencia de embriones, y otros factores desencadenantes. Es necesario realizar más estudios para comprender mejor los posibles factores adicionales y desarrollar mejores algoritmos para un tratamiento óptimo.

Challenges in diagnosis and management of acquired factor V inhibitors

Inhibitors to factor V is a rare phenomenon with varied clinical presentation ranging from asymptomatic states to life-threatening bleeds. They are known to be associated with exposure to bovine thrombin, drugs, autoimmune diseases and malignancies. Establishing the diagnosis of FV inhibitors is challenging and the presence of lupus-like properties of the inhibitor can further complicate the diagnosis. Here we document an unusual case of an asymptomatic elderly female posted for pacemaker implantation and incidentally, the laboratory workup revealed a disproportionately abnormal coagulation screen. The intricacies in the diagnosis and management are discussed along with a brief review of the literature. An awareness of the diverse manifestations of this underrecognized disorder and difficulties in management is essential for medical practitioners, particularly in patients with idiopathic severe bleeding diathesis.

Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil

ABSTRACT Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G>A and g.20210G>A) and hyperhomocysteinemia (g.677C>T and g.1298A>C), samples from voluntary healthy blood donors at the Hospital de Clínicas de Porto Alegre were tested. Methods: We examined 325 blood samples from blood donors collected from October 2017 to July 2018. Blood was collected on filter paper and the DNA was extracted for single nucleotide polymorphisms (SNPs) analysis using the qualitative real time polymerase chain reaction. Results: The calculated frequencies of each genetic variant in heterozygosity were 4% for the FV gene (g.1691G> A), 4% for the F2 gene (g.20210G> A) and 42% and 39% for methylenetetrahydrofolate reductase (MTHFR), g.677C>T and g.1298A>C, respectively. Only the genetic variants of MTHFR were found in homozygosity, with frequencies of 14% and 6% (g.677C>T and g.1298A>C), respectively. Discussion: Altogether, these results describe the frequencies of genetic variants associated with venous thrombosis and hyperhomocysteinemia in the analyzed group and are important to enhance our current knowledge about the genetic profiles of Brazilian blood donors.

Factores congénitos de los trastornos trombóticos arteriales en recién nacidos / Congenital factors of arterial thrombotic disorders in newborns

La trombosis arterial neonatal representa el 5,8% de todos los tipos de trombosis conocidos en recién nacidos, esto convierte a esta enfermedad en un punto de enfoque específico para su diagnóstico oportuno, y descifrar los factores congénitos de mayor recurrencia, se realizó una revisión sistemática PRISMA, donde se evaluaron 20 artículos de tipo observacional transversal, detallando los resultados obtenidos en cuanto al factor congénito más recurrente que en este caso es el sexo masculino, prematuridad y defectos genéticos se han mencionado además los marcadores bioquímicos y moleculares mayormente evaluados en esta muestra, demostrando que en estos casos los marcadores bioquímicos analizados con frecuencia son: antitrombina III, Proteína C y S, anticuerpos antifosfolípidos y homocisteína y como marcadores moleculares se evalúa con mayor recurrencia a: Factor V Leiden y el gen de la protrombina G20210A.

Factores congénitos de los trastornos trombóticos arteriales en recién nacidos / Congenital factors of arterial thrombotic disorders in newborns

La trombosis arterial neonatal representa el 5,8% de todos los tipos de trombosis conocidos en recién nacidos, esto convierte a esta enfermedad en un punto de enfoque específico para su diagnóstico oportuno, y descifrar los factores congénitos de mayor recurrencia, se realizó una revisión sistemática PRISMA, donde se evaluaron 20 artículos de tipo observacional transversal, detallando los resultados obtenidos en cuanto al factor congénito más recurrente que en este caso es el sexo masculino, prematuridad y defectos genéticos se han mencionado además los marcadores bioquímicos y moleculares mayormente evaluados en esta muestra, demostrando que en estos casos los marcadores bioquímicos analizados con frecuencia son: antitrombina III, Proteína C y S, anticuerpos antifosfolípidos y homocisteína y como marcadores moleculares se evalúa con mayor recurrencia a: Factor V Leiden y el gen de la protrombina G20210A.

Neonatal arterial thrombosis represents 5.8% of all known types of thrombosis in newborns, this makes this disease a specific point of focus for its timely diagnosis, and to decipher the congenital factors of greater recurrence, a systematic review PRISMA was performed, where 20 articles of cross-sectional observational type were evaluated, detailing the results obtained in terms of the most recurrent congenital factor which in this case is male sex, prematurity and genetic defects have also been mentioned biochemical and molecular markers mostly evaluated in this sample, showing that in these cases the biochemical markers frequently analyzed are: Antithrombin III, Protein C and S, antiphospholipid antibodies and homocysteine and as molecular markers are evaluated with greater recurrence to: Factor V Leiden and the prothrombin gene G20210A.

Prevalencia de mutaciones metilentetrahidrofolato reductasa (MTHFR), protrombina (II G20210G/G20210A) y factor V Leyden en pacientes sometidos a estudio por perfil trombofílico en el Hospital San Vicente de Paúl, Costa Rica, 2017-2018 / Prevalence of mutations Methylentetrahydrofolate reductase (MTHFR), Prothrombin (II G20210G/G20210A) and Leyden V factor in patients undergoing studies by thrombophilic profile. Hospital San Vicente de Paul. Costa Rica, 2017 to 2018

Resumen Introducción: en los últimos años se han descrito alteraciones genéticas asociadas con un mayor o menor riesgo de padecer una enfermedad trombótica. El objetivo del presente estudio es conocer la prevalencia de las mutaciones para la metilentetrahidrofolato reductasa (MTHFR), la protrombina (II G20210G/G20210A) y el factor V Leyden en las muestras de pacientes sometidas a estudio por perfil trombofílico en el Hospital San Vicente de Paúl. Metodología: con la base de datos de muestras referidas del Hospital San Vicente de Paúl, se estudiaron los marcadores de riesgo para trombofilia: MTHFR, Ac Lúpico, mutación del Factor II y Factor V Leyden correspondientes al periodo comprendido entre abril de 2017 a abril de 2018. Resultados: se observó que la frecuencia de la solicitud de estudio por trombofilia era mayor para el sexo femenino, con un 83,7 % del total de análisis, mientras que, para el sexo masculino fue de un 16,3 %. La mutación más prevalente fue la MTHFR, seguida del factor V Leyden, además, ambas se presentaron superiormente en las mujeres. Conclusión: se ha demostrado en varios estudios la asociación de las alteraciones genéticas estudiadas con los eventos trombóticos, por lo tanto, conocer su prevalencia en determinada población es de gran importancia para ayudar al clínico a llegar a un diagnóstico adecuado.

Abstract Introduction: Genetic alterations associated with a higher or lower risk of thrombotic disease have been reported in recent years, the objective of this study is to understand the prevalence of mutations for methylentetrahydrofolate reductase (MTHFR), Mutation for prothrombin (II G20210G/G20210A) and Mutation for factor V Leyden, in the samples of patients undergoing studies by thrombophilic profile, at the Hospital San Vicente de Paul. Methodology: To carry out this study, we use the database of reference samples of the Hospital San Vicente de Paúl for the study of risk markers for thrombophilia: MTHFR, Ac Lúpico, Mutation of Factor II, Factor V Leyden in the period from April 2017 to April 2018. Results: From the analyses requested for thrombophilia study, the frequency in the thrombophilia study request was observed to be higher for female sex, with a frequency of 83.7% of total testing and 16.3% for the male sex. The most prevalent mutation is MTHFR, followed by the Mutation for factor V Leyden, and both mutations occur in greater numbers in women. Conclusion: The association of genetic alterations studied with thrombotic events has been shown in several studies so knowing their prevalence in a given population is of great importance to help the clinic arrive at an appropriate diagnosis.

Surgical management of the patient with factor V deficiency: a case report

Factor V(FV) is a rare bleeding disorder that its incidence is one in a million. Patients with FV deficiency have typically mucosal bleeding and prolonged bleeding after an invasive procedure. There are no certain treatment modalities and there is no product of FV concentrates in the markets. The bleeding diathesis and protect the ovarian viability are a challenge as an opposite situation for treatment options and ovarian preservation after detorsion is controversial. We aimed to provide ovarian blood-stream,control bleeding and protect thromboembolism from the patient with all of our treatment in the light of literature and a few case reports.

Lipase and factor V (but not viral load) are prognostic factors for the evolution of severe yellow fever cases

BACKGROUND Despite a highly efficacious vaccine, yellow fever (YF) is still a major threat in developing countries and a cause of outbreaks. In 2018, the Brazilian state of São Paulo witnessed a new YF outbreak in areas where the virus has not been detected before. OBJECTIVE The aim is to describe the clinical and laboratorial characteristics of severe cases of YF, evaluate viral to determine markers associated with fatal outcome. METHODS Acute severe YF cases (n = 62) were admitted to the Intensive Care Unit of a reference hospital and submitted to routine laboratorial evaluation on admission. YFV-RNA was detected in serum and urine by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and then sequenced. Patients were classified in two groups: survival or death. FINDINGS In the univariate analysis the following variables were associated with outcome: alanin aminotransferase (ALT), aspartat aminotransferase (AST), AST/ALT ratio, total bilirubin (TB), chronic kidney disease epidemiology collaboration (CKD-EPI), ammonia, lipase, factor V, international normalised ratio (INR), lactate and bicarbonate. Logistic regression model showed two independent variables associated with death: lipase [odds ratio (OR) 1.018, 95% confidence interval (CI) 1.007 to 1.030, p = 0.002], and factor V (OR -0.955, 95% CI 0.929 to 0.982, p = 0.001). The estimated lipase and factor V cut-off values that maximised sensitivity and specificity for death prediction were 147.5 U/L [area under the curve (AUC) = 0.879], and 56.5% (AUC = 0.913). MAIN CONCLUSIONS YF acute severe cases show a generalised involvement of different organs (liver, spleen, heart, kidneys, intestines and pancreas), and different parameters were related to outcome. Factor V and lipase are independent variables associated with death, reinforcing the importance of hemorrhagic events due to fulminant liver failure and pointing to pancreatitis as a relevant event in the outcome of the disease.

First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

Anti-phospholipid syndrome in seven leprosy patients with thrombotic events on corticosteroid and/or thalidomide regimen: insights on genetic and laboratory profiles

Abstract INTRODUCTION Corticosteroids and/or thalidomides have been associated with thromboembolism events (TBE) in multibacillary (MB) leprosy. This report aimed to determine genetic and laboratory profiles associated with leprosy and TBE. METHODS Antiphospholipid antibodies (aPL), coagulation-related exams, prothrombin and Leiden's factor V mutations, and ß2-glycoprotein-I (ß2GPI) Val247Leu polymorphism were assessed. RESULTS Six out of seven patients with leprosy were treated with prednisone and/or thalidomide during TBE and presented at least one positive aPL. All patients presented ß2GPI polymorphism, and one showed prothrombin mutation. CONCLUSIONS Corticosteroid or thalidomide adverse effects and aPL and ß2GPI polymorphisms may cause TBE in patients with MB leprosy.

A Case of Acquired Factor V Deficiency after Percutaneous Coronary Intervention / 대한내과학회지

Acquired factor V deficiency is extremely rare. Here we report the case of an 88-year-old female patient who presented with hematochezia 1 month after undergoing percutaneous coronary intervention. Her laboratory results showed an extremely prolonged prothrombin time and an activated partial thromboplastin time, but neither improved after fresh frozen plasma transfusion. She was finally diagnosed with acquired factor V deficiency and successfully treated with an immunosuppressant.

Off-Pump Coronary Artery Bypass Graft in a Patient with Congenital Factor V Deficiency and Hereditary Spherocytosis Complicated with Stage 4 Diabetic Nephropathy / 日本心臓血管外科学会雑誌

<p>A 64-year-old man with congenital factor V deficiency and hereditary spherocytosis was attending our hospital for type II diabetes and stage 4 diabetic nephropathy. Coronary angiography performed to assess chest pain revealed severe triple-vessel disease, including total occlusion of the right coronary artery. The patient required surgical coronary revascularization. In the preoperative examination, the activated partial thromboplastin time (APTT) and prothrombin time-international normalized ratio (PT-INR) were high (89.5 s and 1.95) and factor V activity was low (6% ; normal range, 70-135%). Hemodialysis was performed on the day of the operation, and 6 units of fresh frozen plasma (FFP) were administered, which reduced immediately the preoperative PT-INR to 1.33. We performed off-pump coronary artery bypass grafting (OPCAB) and perioperatively administered 6 units of FFP with 4 units of red blood cells (RBC) transfusion. The postoperative course of the patient was uneventful, and he was discharged on postoperative day 22. Here we report the case of a patient with a very rare disease of congenital factor V deficiency and hereditary spherocytosis complicated with stage 4 diabetic nephropathy who required OPCAB.</p>

Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome

Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%-5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies.

Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome

Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%-5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies.

Trombofilias hereditarias / Hereditary Thrombophilia

Las trombofilias hereditarias suponen un grupo de enfermedades que predisponen al desarrollo de enfermedad tromboembólica arterial y venosa, debido a déficit o ganancia de función de factores anticoagulantes o procoagulantes incrementando de manera significativa la morbilidad y mortalidad en la población adulta y pediátrica. La expresión y penetrancia genética de este grupo de enfermedades es diversa, y las formas de presentación clínica varía desde la purpura fulminans neonatal hasta episodios tromboembólicos recurrentes a edades tempranas y efectos adversos en el embarazo. El screening no es rutinario en pacientes con cuadros tromboembólicos y sus indicaciones son precisas, en especial personas menores a los 45 años, con cuadros recurrentes, y abortos o muertes fetales a repetición sin causa específica. El tratamiento es basado de acuerdo a la presentación del cuadro clínico, sin embargo la anticoagulación convencional es ampliamente utilizada en el manejo de este grupo de pacientes.

Inherited thrombophilia represent a group of diseases that predispose to the development of arterial and venous thromboembolic disease due to deficiency or gain of function of anticoagulant or procoagulant factors, increasing significantly the morbidity and mortality in the adult and pediatric population. Expression and genetic penetrance to this group of diseases is diverse, and the form of clinical presentation varies from the neonatal purple fulminans to recurrent thromboembolic events at a young age and pregnancy with side effects. The screening is not routine in patients with thromboembolic condition and its indications are accurate, especially in younger people than 45, with recurrent episodes of abortions or fetal deaths without specific cause. Treatment is based according to the clinical presentation of the condition; however conventional anticoagulation is widely used in the treatment of this patient group.

Comparison of the Real-Time PCR Tests for Factor V G1691A and Prothrombin G20210A with PCR-Restriction Fragment Length Polymorphism and Direct Sequencing Tests / 임상검사와정도관리

BACKGROUND: Factor V (FV) G1691A and prothrombin G20210A mutations are the most common targets of genetic tests for thromboembolism. This study compared the ability of real-time PCR to detect FV G1691A and prothrombin G20210A (BioSewoom, Korea) with that of PCR-restriction fragment length polymorphism (RFLP) and direct sequencing, to evaluate diagnostic equivalency. METHODS: Real-time PCR was compared with PCR-restriction fragment length polymorphism (RFLP) and direct sequencing using patients' samples as well as heterozygous and homozygous World Health Organization (WHO) reference reagent DNA. The limit of detection (LoD) for real-time PCR was determined using WHO reference reagents. RESULTS: All 141 and 156 patient samples were tested for the FV G1691A and prothrombin G20210A mutations, respectively; the results from all three methods (real-time PCR, PCR-RFLP, and direct sequencing) consistently showed that the samples were wild type. Each of the three methods showed the same results in tests using heterozygous and homozygous DNA from the WHO reference reagents. The LoD of wild type and homozygous samples was 65.16 pg/mL for FV G1691A, and 61.3 pg/mL for prothrombin G20210A. The LoD of heterozygous samples was 1,650.0 pg/mL for FV G1691A and 1,640.0 pg/mL for prothrombin G20210A. CONCLUSIONS: The real-time PCR test kits for FV G1691A and prothrombin G20210A showed reliable equivalency with PCR-RFLP and direct sequencing, and could be useful tests to detect gene polymorphisms for thromboembolism.

Inherited thrombophilia profile in patients with recurrent miscarriages: Experience from a tertiary care center in north India

The cause of recurrent miscarriage (RM) remains unexplained in approximately 30% to 50% cases. The association of inherited thrombotic factors and RM patients has not been documented from the northern part of India. A total of 40 patients had been investigated for inherited thrombophilia workup (protein C, protein S [PS], antithrombin III, and factor V Leiden [FVL] mutation) over a period of 10 years (2005 to 2014). RM patients were divided in to three groups. Group I (only 1st trimester loss), group II (only 2nd and 3rd trimester), and group III (mixed). Each group comprised of the following numbers of patients respectively: I, 24; II, 2; III, 14. Heterozygous FVL mutation was found in 10% (4/40) cases. PS deficiency was detected in 2.7% (1/37) cases. In the present study FVL and PS were seems to be associated with a subset of patients however further studies with larger numbers of patients are recommended for better evaluation.

Deficiencia congénita del factor V / Congenital deficiency of factor V

El factor V de la coagulación es encontrado en el plasma y en las plaquetas y tiene un profundo impacto sobre la generación de la trombina. La deficiencia de este factor puede ser congénita o adquirida y se caracteriza por un amplio espectro de signos, que van desde sangrado mucocutáneo hasta compromiso del sistema nervioso central. A continuación se presenta el caso de una paciente de 33 años de edad con hemorragia uterina anormal de varios años de evolución, sin evidenciar mejoría en el manejo instaurado en consultas previas, realizándose paraclínicos que concluyen deficiencia congénita del factor V.

Blood coagulation factor V (FV) plays a pivotal role in blood coagulation. It is found in both plasma and in platelets and has a profound impact on thrombin generation. Deficiency of this clotting factor due to inherited or acquired conditions results in a broad spectrum of bleeding symptoms. ranging from mucocutaneous bleeding to central nervous system bleeding. We present a case of a 33-year-old woman with abnormal uterine bleeding for several years, not improvement with the management in previous consultations, concluding after several tests a congenital Leiden V factor deficiency.

Síndrome de Budd Chiari: Reporte de tres casos y revisión de la literatura / Budd Chiari Syndrome: Three Case Reports and a Literature Review

Se describen los casos de tres pacientes de sexo femenino a quienes se les hizo diagnóstico de síndrome de Budd Chiari. En una paciente la presentación del síndrome fue subaguda, pudiendo ser manejada exitosamente con la colocación de TIPS. Otra con mutación del factor V Leyden asociada desarrolló disfunción hepática progresiva y requirió de trasplante hepático. En dos de los tres casos se identificó una enfermedad hematológica como trastorno de base, y en uno el uso de anticonceptivos orales como factor de riesgo. Las tres pacientes fueron sometidas a terapia anticoagulante y el manejo quirúrgico fue definido de acuerdo a su condición clínica. Sin embargo, en un caso la presentación fue aguda con falla hepática y muerte.

This article describes the cases of three female patients who were diagnosed with Budd-Chiari syndrome. One patient was subacute and could be successfully managed by placement of a transjugular intrahepatic portosystemic stent (TIPS). Another patient who had the Factor V Leiden mutation developed associated progressive liver dysfunction and required liver transplantation. A hematologic disease was identified as the underlying disorder in two of the three cases. For one patient, the use of oral contraceptives was a risk factor. Since all three patients were undergoing anticoagulant therapy, surgical management was determined according to each patient’s clinical condition. Nevertheless, the one patient who that presented acute hepatic failure did not survive.

Fatores de risco hereditários e adquiridos na coagulação: impacto no desenvolvimento de eventos tromboembólicos em pacientes com lesão medular causada por trauma raquimedular / Hereditary and acquired clinical risk factors in the coagulation: impact in the development of thromboembolic events in patients with spinal injury caused by spinal cord injury

Objetivo: Avaliar o impacto de fatores de risco no desenvolvimento de eventos tromboembólicos em pacientes com lesão medular. Métodos: Estudo observacional, prospectivo e cruzado. Pacientes elegíveis (n=100) tinham lesão medular por trauma raquimedular e mais de 18 anos. O grau de lesão sensorial e motora foi avaliado com base na escala ASIA (ASIA Impairment Scale - AIS). Amostras de sangue foram coletadas para exames de coagulação, hemogramas, análises bioquímicas e laboratoriais. Exames de ultrassonografia foram realizados nos sistemas venosos superficial e profundo dos membros inferiores. Experimentos de PCR em tempo real foram realizados com o intuito de investigar mutações nos genes da protrombina (G20210A) e do fator V de Leiden (G1691A). Resultados: O principal achado deste estudo foi a maior ocorrência de Trombose Venosa Profunda (TVP) em pacientes com fator V de Leiden e hiperhomocisteinemia. Não houve associação entre Lesão Medular por TVP, Tromboembolismo Venoso (TEV) e trombofilia. Não houve também relação com lúpus anticoagulante e anti-cardiolipina. Conclusões: Houve importante diferença na incidência de TVP em pacientes com Lesão Medular, tanto aguda quanto crônica (após um ano da lesão). A investigação de trombofilia deve ter como base os fatores clínicos, fatores de risco para TVP e história familiar de trombose

Objective: Evaluate the impact of risk factors in the development of thromboembolic events in patients with spinal cord injury. Design: Observational, prospective and cross study. Eligible patients (n=100) had spinal injury (SI) by spinal cord injury (SCI), older than 18 years of age. The degree of motor and sensory lesion was evaluated based on ASIA Impairment Scale (AIS). Blood samples were collected for coagulation exams, hemogram, laboratory and biochemical analyses. Ultrasonography analyzes were performed from deep and superficial venous systems of lower limbs. Quantitative real-time PCR experiments were performed in order to investigate mutations in the prothrombin (G20210A) and Leiden factor V (G1691A) genes. Results: The main finding of this study was the higher occurrence of Deep Venous Thromboembolism (DVT) in patients with Leiden factor V and hyper homocysteinemia. There was no association between SI for DVT, venous thromboembolism (VT) and thrombophilia. Also, there was no relation between lupus anticoagulant and anti-cardiolipin. Conclusions: There is an important difference in the incidence of DVT in patients with SI by acute SCI and after 1 year. The conduct of the investigation for thrombophilia should be based on clinical factors, risk factors for DVT and family history of thrombosis