Successful outcomes of surgery procedures in patient with Glanzmann´s Thrombasthenia

We report a 35-year-old female patient with Glanzmann's thrombasthenia (GT) and severe anemia due to abnormal uterine bleeding secondary to uterine myomatosis. She required several admissions of red blood cells and platelet transfusions. An elective subtotal hysterectomy with salpingo-oophorectomy was proposed and recombinant factor VII was required. Surgical and postoperative outcomes were successful, without surgical complications, bleeding, or hemogram alterations. 4 years later, she required tooth extraction because of periodontal disease and pulp necrosis. In Peru, reports of GT patients requiring major and minor surgical procedures are lacking, given the low disease prevalence and the difficulties related to surgery. The report of these successful cases becomes relevant to continue improving GT management.

Presentamos el caso de una paciente de 35 años con trombastenia de Glanzmann (GT) y anemia severa por sangrado uterino anormal secundario a miomatosis uterina. Requirió varias admisiones de transfusiones de glóbulos rojos y plaquetas. Se propuso histerectomía subtotal electiva con salpingo-ooforectomía y se requirió factor VII recombinante. Los resultados quirúrgicos y postoperatorios fueron exitosos, sin complicaciones quirúrgicas, sangrado ni alteraciones del hemograma. 4 años después, requirió extracción dental por enfermedad periodontal y necrosis pulpar. En Perú faltan reportes de pacientes con GT que requieran procedimientos quirúrgicos mayores y menores, dada la baja prevalencia de la enfermedad y las dificultades relacionadas con la cirugía. El reporte de estos casos de éxito cobra relevancia para seguir mejorando la gestión de GT

Perioperative administration of recombinant activated factor VII in a Glanzmann's thrombasthenia patient with platelet refractoriness: case report

Abstract Glanzmannʼs Trombasthenia (GT) is a genetic disorder, that develops with a tendency toward bleeding and is characterized by the absence or decrease in platelet aggregation. Surgical bleeding may be difficult to control. Platelet transfusion is the main treatment, albeit refractoriness can occur. We describe the case of a patient with GT and platelet refractoriness, who was submitted to radical prostatectomy and dental extraction. The perioperative treatment with apheresis platelet concentrate and activated recombinant factor seven allowed the procedures to be performed uneventfully. We discuss the complexity of the case and the treatment option.

Hemorragia digestiva en el contexto de una deficiencia aislada del factor VII: reporte de caso / Gastrointestinal bleeding in the context of isolated factor VII deficiency: case report

Introducción: Se conoce poco de la forma adquirida del déficit del factor VII y son pocos los casos reportados en la literatura. Objetivo: Presentar el caso de una paciente con déficit aislado del factor VII, en el contexto de una hemorragia digestiva baja. Presentación del caso: Mujer peruana de 82 años que acude a emergencia por presentar hemorragia digestiva baja. Durante los exámenes de rutina se le detecta tiempo de protrombina prolongado y déficit aislado de factor VII. No se evidencia mecanismos patológicos de deficiencia de vitamina K o malabsorción, terapia anticoagulante con antagonistas de la vitamina K, hiperfibrinolisis o coagulación intravascular diseminada. Respondió al tratamiento con plasma fresco congelado y los resultados normales de la prueba hematológica realizada a la hermana, alejan la posible etiología hereditaria. Conclusión: Este caso peruano de déficit aislado del factor VII, en el contexto de una hemorragia digestiva baja, permite sumar información a la escasa evidencia Latinoamericana(AU)

Introduction: Little is known about the acquired form of factor VII deficiency and few cases are reported in the literature. Objective: To present a case of a patient with an isolated deficit of factor VII, in the context of low gastrointestinal bleeding. Presentation of the case: 82-year-old Peruvian woman who comes to the emergency room for presenting with lower GI bleeding. Prolonged prothrombin time and isolated factor VII deficiency are detected during routine examinations. There were no evidence of pathological mechanisms of vitamin K deficiency or malabsorption, anticoagulant therapy with vitamin K antagonists, hyperfibrinolysis, or disseminated intravascular coagulation. She responded to the treatment with fresh frozen plasma and the normal results of the hematological test carried out on the sister remove the possible hereditary etiology. Conclusion: This Peruvian case of isolated factor VII deficit, in the context of low gastrointestinal bleeding, allows adding information to the limited Latin American evidence(AU)

Adequacy of hemostatic resuscitation improves therapeutic efficacy of recombinant activated factor VII and reduces reexploration rate for bleeding in postoperative cardiac surgery patients with refractory hemorrhage

Background: Excessive bleeding and surgical reexploration are common complications that increase the risk of multi-organ failure and prolonged hospitalization after cardiac surgery. Off-label use of recombinant activated factor VII (rFVIIa) is a recommended treatment for refractory bleeding. Objective: The objective of the study is to determine if the adequacy of hemostatic resuscitation enhances the efficacy of rFVIIa. Methods: This retrospective, observational, cohort study included patients who received rFVIIa for refractory postoperative bleeding after cardiac surgery. Patients were divided into two groups based on the presence or absence of adequate coagulation resuscitation before rFVIIa administration, defined as international ratio (INR) ≤1.5, platelet count ≥100 K/mL, and fibrinogen ≥200 mg/dL. The failure of rFVIIa treatment was defined as surgical reexploration within 24 h, thoracostomy drainage >400 mL/h within 6 h or transfusion of additional blood products or another rFVIIa dose within 6 h after initial rFVIIa dose. Results: Of the 3833 patients, screened who underwent cardiothoracic surgery procedures, 58 patients received rFVIIa for refractory postoperative bleeding. Successful hemostasis with rFVIIa was more likely in patients who were adequately resuscitated compared with those who were not (20 [71.4%] vs. 10 [33.3%], respectively; P = 0.0046). Multiple logistic regression analysis indicated that patients who were adequately resuscitated before rFVIIa were less likely to fail treatment (odds ratio, 0.16; 95% confidence interval [0.04–0.62]; P = 0.007). Conclusions: The therapeutic efficacy of rFVIIa is dependent on the adequacy of hemostatic resuscitation; restoration of normal serum fibrinogen, INR, and platelet counts >100 K/mL may provide an adequate substrate for rFVIIa to be effective in managing refractory postoperative cardiac surgical bleeding.

Manejo de una paciente embarazada con déficit congénito de factor VII leve / Management of a pregnant patient with mild factor VII congenital deficiency

RESUMEN No hay guías específicas para el manejo de pacientes embarazadas con la deficiencia de Factor VII; no hay una correlación entre el nivel de FVII y el riesgo de hemorragia y el nivel del Factor VII aumento durante el embarazo. Presentamos un caso clínico, el manejo y las recomendaciones del consenso.

Terapia secuencial: una opción en el paciente hemofílico que no responde al manejo con monoterapia con agentes puente, estudio observacional del GrHeCol (Grupo Hemofilia Colombia) / Sequential therapy: an option for hemophiliac patients not responding to monotherapy with bypassing agents. Observational study of the GrHeCol (Grupo Hemofilia Colombia)

RESUMEN Introducción: la hemofilia A y B severa son condiciones que predisponen al sangrado espontáneo. Una de las complicaciones de la terapia con concentrados de factores de coagulación es el desarrollo de anticuerpos o inhibidores contra los factores VIII o IX. El tratamiento en casos de inhibidores de título alto, para el control de la hemorragia, es la administración de agentes puente como el complejo protrombínico activado y Factor VII recombinante activado. La respuesta a cada uno de ellos no es predecible, en algunos casos puede ser necesario el uso de la terapia secuencial cuando esta estrategia falla. Objetivo: reportar cinco casos de hemofilia A severa e inhibidores de título alto con sangrado severo, sin respuesta clínica con monoterapia y que recibieron terapia secuencial. Métodos: estudio multicéntrico, descriptivo, observacional. Las variables cualitativas se presentan con frecuencias absolutas y relativas, y las cuantitativas se resumen con medidas de tendencia central. Resultados: cuatro pacientes evaluados que aportaron cinco eventos, la mediana de edad 20 años; mediana de días de monoterapia 10; 8,6 días de terapia secuencial, tiempo a resolver el sangrado cuatro días. Ausencia de complicaciones trombóticas. Conclusiones: la terapia secuencial es una opción para aquellos pacientes que no responden a la monoterapia y requieren control hemostático. En los cinco casos reportados, la terapia secuencial logró controlar el sangrado sin complicaciones.

SUMMARY Introduction and objectives: Patients diagnosed with severe hemophilia are at risk of developing inhibitors of low or high title, being the treatment of choice for this latter group of patients the immune tolerance therapy (ITI). In cases where the immune tolerance fails or presents bleeding events, we can use activated prothrombin complex (APCC) or Recombinant activated factor VII (rFVIIa); however, patients may fail to these agents as monotherapy. The aim of this paper is to report five cases of severe hemophilia and high titer inhibitors with mayor bleeding, which fail to respond to monotherapy and required sequential therapy. Methods: Case report study, qualitative variables are presented as absolute and relative frequencies and quantitative are summarized with measures of central tendency. Results: Five patients with median age 20 years; monotherapy treatment with median 10 days; 8.6 days of sequential therapy, time to control the bleeding: 4 days. There were no thrombotic complications. Conclusions: Sequential therapy is an option for patients who do not respond to monotherapy and requires hemostatic control. In all the cases of this report, the patients were responsive with bleeding control.

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

Impact on postoperative bleeding and cost of recombinant activated factor VII in patients undergoing heart transplantation.

Background: Cardiac transplantation can be complicated by refractory hemorrhage particularly in cases where explantation of a ventricular assist device is necessary. Recombinant activated factor VII (rFVIIa) has been used to treat refractory bleeding in cardiac surgery patients, but little information is available on its efficacy or cost in heart transplant patients. Methods: Patients who had orthotopic heart transplantation between January 2009 and December 2014 at a single center were reviewed. Postoperative bleeding and the total costs of hemostatic therapies were compared between patients who received rFVIIa and those who did not. Propensity scores were created and used to control for the likelihood of receiving rFVIIa in order to reduce bias in our risk estimates. Results: Seventy‑six patients underwent heart transplantation during the study period. Twenty‑one patients (27.6%) received rFVIIa for refractory intraoperative bleeding. There was no difference in postoperative red blood cell transfusion, chest tube output, or surgical re‑exploration between patients who received rFVIIa and those who did not, even after adjusting with the propensity score (P = 0.94, P = 0.60, and P = 0.10, respectively). The total cost for hemostatic therapies was significantly higher in the rFVIIa group (median $10,819 vs. $1,985; P < 0.0001). Subgroup analysis of patients who underwent redo‑sternotomy with left ventricular assist device explantation did not show any benefit for rFVIIa either. Conclusions: In this relatively small cohort, rFVIIa use was not associated with decreased postoperative bleeding in patients undergoing heart transplantation; however, it led to significantly higher cost.

Use of Recombinant Activated Factor VII for Pulmonary Hemorrhage in Premature Infants: A Single-Center Experience / 임상소아혈액종양

BACKGROUND: Pulmonary hemorrhage in prematurity is a life-threatening complication and associated with a high mortality. Recombinant activated factor VII (rFVIIa) has been reported as hemostatic treatment in sick neonates with refractory bleeding events in many studies. We evaluated the efficacy and safety of rFVIIa in prematurity with pulmonary hemorrhage in our institution.METHODS: From the prematurities who were treated with rFVIIa to pulmonary hemorrhage from January 2010 to December 2015, we retrospectively analyzed the results of rFVIIa.RESULTS: Of the 29 prematurities who were treated with rFVIIa for pulmonary hemorrhage, fifteen were male and fourteen were female. The median gestational age was 27 1/7 weeks (range, 22 1/7-34 1/7 weeks) and median birth weight was 870 g (range, 470-2,070 g). One to eight doses of rFVIIa (median dose 115.6 µg/kg/dose) were administered, with 16 (55%) patients receiving a single dose. Hemostatic effect was achieved in 21 (72.4%) cases, but 6 of 21 patients died of unrelated cause, and overall mortality was 14 of 29 (48.3%). Thrombotic adverse event was not observed in any of our patients.CONCLUSION: Although the number of patients included in this study was small and the fact that this was a retrospective non-randomized control study, rFVIIa could be considered as a therapeutic option for pulmonary hemorrhage in prematurity.

Use of Recombinant Activated Factor VII for Pulmonary Hemorrhage in Premature Infants: A Single-Center Experience / 임상소아혈액종양

BACKGROUND: Pulmonary hemorrhage in prematurity is a life-threatening complication and associated with a high mortality. Recombinant activated factor VII (rFVIIa) has been reported as hemostatic treatment in sick neonates with refractory bleeding events in many studies. We evaluated the efficacy and safety of rFVIIa in prematurity with pulmonary hemorrhage in our institution. METHODS: From the prematurities who were treated with rFVIIa to pulmonary hemorrhage from January 2010 to December 2015, we retrospectively analyzed the results of rFVIIa. RESULTS: Of the 29 prematurities who were treated with rFVIIa for pulmonary hemorrhage, fifteen were male and fourteen were female. The median gestational age was 27 1/7 weeks (range, 22 1/7-34 1/7 weeks) and median birth weight was 870 g (range, 470-2,070 g). One to eight doses of rFVIIa (median dose 115.6 µg/kg/dose) were administered, with 16 (55%) patients receiving a single dose. Hemostatic effect was achieved in 21 (72.4%) cases, but 6 of 21 patients died of unrelated cause, and overall mortality was 14 of 29 (48.3%). Thrombotic adverse event was not observed in any of our patients. CONCLUSION: Although the number of patients included in this study was small and the fact that this was a retrospective non-randomized control study, rFVIIa could be considered as a therapeutic option for pulmonary hemorrhage in prematurity.

A Case of Successful Endoscopic Submucosal Dissection of Gastric Adenoma in a Patient with Congenital Factor VII Deficiency

Congenital factor VII deficiency is a rare hemorrhagic disorder, and invasive procedures are likely to cause excessive bleeding in these patients. Endoscopic submucosal dissection (ESD) has been accepted as a curative treatment modality for gastric adenoma, early gastric cancer (EGC) and any other mucosal and submucosal tumors. The most important complications of ESD are bleeding and perforation. The use of antiplatelet agents or coagulopathies are risk factors for these complications. There are only few reports of successful ESD with coagulation disorders. We report a case of a 70-year-old female patient who was diagnosed with a gastric adenoma and factor VII deficiency. The patient was successfully treated with ESD. Before ESD, recombinant Coagulation factor VIIa was injected, and the procedure was performed successfully without any complications. In conclusion, ESD can be performed successfully in patients with factor VII deficiency, when recombinant human factor VIIa is administered properly.

Nuss Procedure and Factor VII Deficiency: A Case Report.

A 19 year-old boy admitted with pain and discoloration on his chest wall 18 months after a Nuss procedure performed for pectus excavatum deformity. His physical examination revealed that this skin lesion was an ecchymosis. We diagnosed a very rare bleeding disorder due to Factor VII deficiency which is a recessively inherited coagulation disorder where even spontaneous bleedings may be seen. We aimed to discuss the management of the patient, if it had been diagnosed preoperatively and the preoperative preparation before the bar removal.

Research advances of recombinant coagulation factor VII expression and synthesizing mechanism / 中国药科大学学报

Haemophilia is caused by lack of coagulation factor VIII or IX in patients′blood with inadequate hemostasis.Currently recombinant coagulation factor VII(rFVII)produced in different cells is used against clini-cal bleeding of haemophilia patients.To enhance the production and activity of rFVII;some eukaryotic cells such as baby hamster kidney(BHK);Chinese hamster ovary(CHO);insect cell and fish embryo;were used to express rFVII.Meanwhile;the effect of functional gene on the activity of rFVII and the limitation of rFVII production caused by post-translational modification were investigated by different methods.The role of rFVII in hemostasis;synthesis of rFVII in different eukaryotic cells and impact on production of post-translational modification are reviewed in this article.

Successful management of maternal factor VII deficiency in a cesarean section

Factor VII (FVII) deficiency is an infrequent hereditary bleeding disorder that can make excessive bleeding in surgical interventions, such as a postpartum hemorrhage in a cesarean section. Although a recombinant form of activated FVII has been applied for bleeding control in FVII-deficient patients, its applications in the field of obstetrics are still limited, especially in Korea. Replacement of blood products is still preferred as first-line therapy, with antifibrinolytic agents used as adjunctive therapy. We report herein the case of a successful cesarean section in an 18-year-old woman with FVII deficiency.

Clinical Efficacy of Recombinant Activated Factor VII in Management of Postpartum Hemorrhage / 대한주산의학회잡지

PURPOSE: This study was aimed to investigate the clinical efficacy of recombinant activated factor VII (rFVIIa) for patients with intractable postpartum hemorrhage. METHODS: This was a retrospective study of ten patients who were treated with rFVIIa from July 2010 to February 2012 in one tertiary center. To evaluate each case, we used a standardized case record form. The primary outcome measures were response of rFVIIa, reduction of blood product requirement, changes of coagulation parameter. The response of rFVIIa was categorized to three groups: "complete responder", "partial responder", "poor responder". RESULTS: After the administration of rFVIIa, effect for bleeding was completely responded in 4 patients, partially responded in 6 patients, and poorly responded in none. A certain amount of reduction in blood product requirements was noted following rFVIIa administration, although no significant differences were observed statistically between before and after rFVIIa administration except RBC (P<0.01). Fibrinogen and INR were significantly reduced in all case types, but other coagulation parameters were not (P<0.01). CONCLUSION: The present results suggest that rFVIIa is a beneficial therapeutic option that could reduce blood loss and contribute to reduction of maternal morbidities and mortalities in patients with massive postpartum hemorrhage.

Relationship between Gene Polymorphism of Factor VII R353Q and Cerebral Palsy for Han Chinese Children / 中国康复理论与实践

Objective To investigate the relationship between gene polymorphism of factor VII R353Q (FVII R353Q) and cerebral pal-sy for Han Chinese children. Methods Polymerase chain reaction-restricted fragment length polymorphism were used to determine geno-type and allele of R353Q gene in 160 children with cerebral palsy and 137 normal children. Results The genotype of FVII R353Q is close to Hardy-Weinberg equilibrium in both CP group and control group (P>0.05). There was not significant difference in the distribution of the al-lelic frequency and genotype of FVII R353Q between the both groups (P=0.436, P=0.182, respectively). Conclusion The gene polymor-phism of FVII R353Q is not significantly related with cerebral palsy for Han Chinese children.

Conduta no perioperatório de paciente pediátrico com trombastenia de glanzmann durante adenoidectomia / Perioperative management of a pediatric patient with glanzmann's thrombasthenia during adenoidectomy / Conducta en el perioperatorio de paciente pediátrico con trombastenia de glanzmann durante la adenoidectomía

JUSTIFICATIVA E OBJETIVOS: Trombastenia de Glanzmann (TG) é uma doença autossômica recessivamente hereditária das plaquetas. Não há nenhum tratamento específico. A transfusão de plaquetas é atualmente o tratamento padrão quando o sangramento não responde a medidas locais e/ou a medicamentos antifibrinolíticos, podendo, entretanto, resultar em aloimunização. O fator VII recombinante ativado (rFVIIa) pode ser usado para evitar a transfusão recorrente de plaquetas. RELATO DE CASO: Apresentamos um tratamento precoce com dose baixa de rFVIIa associada à transfusão de plaquetas em um caso pediátrico (cinco anos de idade), com diagnóstico de TG e apresentando sangramento prolongado durante adenoidectomia eletiva. Uma dose total de 1.200 mg (60 µg.kg-1) de rFVIIa obteve sucesso em estancar o sangramento, o que pode ser aceito como uma dose baixa. CONCLUSÕES: Relatos de casos podem encorajar o uso de tratamento precoce com baixas doses de rFVIIa em hemorragias graves que não estacam a despeito da transfusão de plaquetas e na prevenção de sangramento em procedimentos cirúrgicos em pacientes com TG. Estudos adicionais são necessários para definir a dose mínima eficaz. Portanto, as tentativas para determinar a dose eficaz mais baixa desse composto devem ser incentivadas consideando o resultado deste caso em face de restrições financeiras no sistema de saúde.

BACKGROUND AND OBJECTIVE: Glanzmann's thrombasthenia (GT) is an autosomal recessively inherited platelet disorder. There is not any specific treatment. Platelet transfusion is currently the standard treatment when bleeding does not respond to local measures and/or antifibrinolytic treatment, although it may result in alloimmunization. Recombinant activated factor VII (rFVIIa) might be used to avoid recurrent platelet transfusion. CASE REPORT: We present early treatment with low-dose rFVIIa additional to platelet transfusion in a 5-year-old pediatric case with diagnosis of GT who developed prolonged bleeding under an elective adenoidectomy surgery. A total dose of 1,200 µg (60 µg.kg-1) rFVIIa could successfully stop bleeding, what can be accepted as low dose usage. CONCLUSIONS: Such case reports may encourage the use of early treatment with low doses of rFVIIa in severe bleeds that did not stop despite of platelet transfusion, as well as in preventing bleeding in surgical procedures in patients with GT. Actually, additional studies are needed to define the minimal effective dose and attempts to determine the lowest effective dose may be encouraged by the result of this case, considering financial restrictions in the health care system.

JUSTIFICATIVA Y OBJETIVOS: La Trombastenia de Glanzmann (TG) es una enfermedad autosómica recesivamente hereditaria de las plaquetas. No hay ningún tratamiento específico. La transfusión de plaquetas es hoy por hoy, el tratamiento estándar cuando el sangramiento no responde a medidas locales y/o a medicamentos antifibrinolíticos, pudiendo sin embargo, resultar en una aloinmunización. El factor VII recombinante activado (rFVIIa) puede ser usado para evitar la transfusión recurrente de plaquetas. RELATO DE CASO: Presentamos aquí un rápido tratamiento con una dosis baja de rFVIIa asociada a la transfusión de plaquetas en un caso pediátrico (5 años de edad), con diagnóstico de TG y presentando un sangramiento prolongado durante la adenoidectomía electiva. Una dosis total de 1.200 mg (60 µg.kg-1) de rFVIIa tuvo éxito al estancar el sangramiento, lo que puede aceptarse como una dosis baja. CONCLUSIONES: Relatos de casos pueden estimular el uso de tratamiento rápido con bajas dosis de rFVIIa en las hemorragias graves que no estancan, pese a la transfusión de plaquetas y a la prevención de sangramiento en los procedimientos quirúrgicos en pacientes con TG. Sin embargo, estudios adicionales se hacen necesarios para definir la dosis mínima eficaz. Por tanto, los intentos para determinar la dosis eficaz más baja de un compuesto tan caro deben ser incentivados debido al resultado de este caso cuando existan restricciones financieras en el sistema de Sanidad.

Laparoscopy-Assisted Small Bowel Resection for Treatment of Adult Small Bowel Intussusception in a Patient with Factor VII Deficiency

Factor VII deficiency is a rare congenital bleeding disorder characterized by episodes of spontaneous bleeding in severely affected individuals. It is rare intussusception due to submucosal hematoma in coagulation factor deficiency patient. We recently experienced an adult small bowel intussusception in a patient with factor VII deficiency. A 36-yr old female patient with coagulation factor VII deficiency who was referred to our hospital underwent emergency surgery for treatment of the small bowel intussusceptions. Emergency laparoscopy-assisted small bowel resection was performed for treatment of small bowel intussusception caused by submucosal hematoma. The patient was successfully treated with close laboratory monitoring and laparoscopy-assisted small bowel resection.

Tratamento da hemorragia pulmonar maciça com fator VII recombinante ativado em prematuro de muito baixo peso / Treatment of massive pulmonary hemorrhage with activated recombinant factor VII in a very low birth weight premature

Neste relato, apresenta-se um caso de prematuro com 33 semanas de idade gestacional e 1.310 gramas, nascido de parto cesariano por retardo de crescimento intrauterino e alterações de fluxo uteroplacentário. Na evolução, apresentou sinais de choque séptico, com hipotensão e necessidade de dopamina e adrenalina contínuas. No sextodia de vida, observou-se hipoxemia refratária a altos parâmetros de ventilação mecânica. O quadro evoluiu com insuficiência renal, sem diurese após o uso de furosemida contínuo. Teve hemorragia pulmonar maciça, sem resposta às transfusões de plasma e plaquetas convencionais. Respondeu ao tratamento com dose de 120 μg/kg do fatorVII recombinante ativado. Após o controle do sangramento, foi instalado cateter para diálise peritoneal contínua, e o recém-nascido recuperou-se gradativamente das disfunções de múltiplos órgãos. Recebeu alta da unidade de terapia intensiva aos 49 dias de vida. Em conclusão, o fator VII recombinante ativado é uma alternativa eficaz de agentepan-hemostático para o controle de hemorragias pulmonares agudas graves no recém-nascido que não responde às manobras ventilatórias e ao uso de concentrados de hemocomponentes.

In this report, the authors present the case of a male premature with 33 weeks of gestation and weighing 1,310 grams, born from cesarean section indicated by retarded intrauterine growth and changes in uteroplacental flow. He showed signs of septic shock with hypotension and needed continuous adrenaline and dopamine. On the sixth day oflife, hypoxemia refractory to high mechanical ventilation parameters was observed. He developed renal failure, without diuresis after continuous furosemide. There was massive pulmonary hemorrhage unresponsive to transfusions of plasma and platelets. He responded to treatment with a dose of recombinant factor VIIa (120 μg/kg). After controlof the bleeding, a catheter for continuous peritoneal dialysis was inserted and the baby gradually recovered from multiple organ dysfunction. He was discharged from the neonatal intensive care unit at 49 days of life. Concluding, the recombinant factor VIIa is an effective pan-hemostatic agent for control of severe acute pulmonary hemorrhagein the newborn that does not respond to ventilatory maneuvers and to the use of conventional blood derivates.

Estudio familiar de las hemofilias A y B: 5 años de experiencia en la detección de portadoras / Family study of hemophilia A and B: 5 years of experience in carrier detection

La hemofilia se caracteriza por ser una enfermedad congénita del trastorno de la coagulación y constituye un desorden recesivo ligado al cromosoma X. El estudio molecular se realiza por estudios indirectos por ser causada por mutaciones heterogéneas en los genes del FVIII y FIX. Se realizó el estudio de 40 familias afectadas con hemofilia A (HA) y 10 hemofilia B (HB). La extracción de ADN se realizó por el método de precipitación salina a 293 muestras de sangre y 19 de líquido amniótico, y se hizo el análisis de los polimorfismos St14, Bcl I y Hind III para la HA y Taq I, Xmn I y Dde I para la HB. Se usó la técnica de PCR. En el caso de la HA se obtuvo el 35 por ciento de informatividad para St14 y Hind III y 32,5 para Bcl 1. El polimorfismo Dde I fue el más informativo para la HB con el 33 por ciento; mientras que Taq I representó el 10 por ciento de informatividad y XmnI el 0 por ciento. Se comprobó que de las 40 familias analizadas con HA, 23 fueron informativas. Por otra parte, fueron informativas 4 familias de las afectadas con HB. Se realizaron 19 diagnósticos prenatales con previa determinación del sexo fetal, incluidos 3 varones enfermos

Hemophilia is a congenital disease of coagulation disorder and it is a recessive disorder linked to X-chromosome. The molecular study is conducted by indirect studies due to it is caused by heterogeneous mutations in gen of FVIII and FIX in 40 families with hemophilia A (HA) and 10 with hemophilia B (HB). DNA extraction was carried out by saline precipitation method in 293 blood samples and 19 samples of amniotic fluid, as well as the analysis of St14, Bcl I and Hind III polymorphism for the AH and Taq I, Xmn I and Dde I for BH. The PCR technique was used. In the caser of AH it was possible to achieve a 35 percent of information for St14 and Hind III and a 32.5 percent for Bcl. Dde polymorphism supplied more information for BH for a 33 percent; whereas the Taq I represented the 10 percent of information and Xmn I the 0 percent. We verified that from the families analyzed with HA, in 23 of them we there was information. Besides, in 4 families affected by HB there was information. A total of 19 prenatal diagnoses were made with a previous determination of fetus sex, including 3 males ill