RESUMEN
Las coagulopatías hereditarias que afectan a mujeres jóvenes, representan un problema durante el embarazo, debido a que conllevan un aumento significativo en el riesgo de hemorragia durante el embarazo, parto y puerperio. Las alteraciones más frecuentes corresponden a la enfermedad de von Willebrand (1 a 2 por ciento de la población) y la hemofilia A (1/10.000 personas). Presentamos el caso clínico de una embarazada con antecedentes familiares de hemofilia A que controló su embarazo en nuestro centro; además entregamos una revisión sobre el tema coagulopatías hereditarias y embarazo.
Asunto(s)
Masculino , Femenino , Embarazo , Recién Nacido , Adulto , Humanos , Complicaciones Hematológicas del Embarazo/terapia , Enfermedades de von Willebrand/complicaciones , Enfermedades de von Willebrand/diagnóstico , Hemofilia A/complicaciones , Hemofilia A/diagnóstico , Antifibrinolíticos/uso terapéutico , Cesárea , Complicaciones Hematológicas del Embarazo/etiología , Desamino Arginina Vasopresina , Hemostasis , Resultado del EmbarazoRESUMEN
Background: Thrombophilia is defined as an altered hemostasis that predisposes to thrombosis. It can be primary when there is a family clustering of the disease or secondary, when it is associated to an acquired risk factor. Aim: To report clinical features in a series of patients with primary thrombophilia. Material and methods: Review of clinical records of patients with thrombotic episodes that lead to the suspicios of primary thrombophilia. Analysis of asymptomatic adult close relatives of these patients. Results: We report 93 subjects (56 females, age range 14-77 years) with repeated episodes of thrombosis and a family history of thrombosis and 12 asymptomatic close relatives. Seventy one percent had the first thrombotic episode before the age of 40 years, 62% had more than one thrombotic episode and 37% had a family history of thrombosis. Twenty four percent had protein C deficiency, 24% had antithrombin III deficiency, 18% had resistance to activated C protein by factor V Leiden, 10% had protein S deficiency, and 10% had the G20210 mutation of prothrombin gene. Among acquired defects studied simultaneously, 30% had lupus anticoagulant and 11% had hyperhomocysteinemia. Twenty four percent of cases had more than one thrombophilic risk factor. Among asymptomatic relatives, five had factor V Leiden, four had protein C deficiency and three had the G20210 mutation of prothrombin gene. Conclusions: Thrombophilia must be suspected in young subjects with thrombotic episodes and a family history. The type of coagulation defect will determine prognosis, and the type of treatment.
Asunto(s)
Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Embarazo , Predisposición Genética a la Enfermedad , Trombofilia , Deficiencia de Antitrombina III/genética , Ecocardiografía Doppler , Ensayo de Inmunoadsorción Enzimática , Métodos Epidemiológicos , Factor V/genética , Deficiencia de Proteína C/genética , Deficiencia de Proteína S/genética , Trombofilia/diagnóstico , Trombofilia/genéticaRESUMEN
Aiming to study the applicability and reproducibility of four comercial kits used for the serological detection of Chagas disease (Chagatest-Inst Invest Paraguay, Ortho Chagas, Abbott Chagas (ELISA tests) and Estabilgen Hemo Chagas (indirect hemagglutination test), a comparative serological study was performed in 256 sera samples coming from a highly endemic area, 249 samples from a low endemic area, 180 reference sera and 2264 samples coming from three blood banks. Specificity of the kits was excellent and sensitivity ranged from 60 to 100 percent. The indirect hemagglutination test has the lower sensitivity. Some disagreements in the results were observed in the three blood banks, probably due to an unsatisfactory reactive management. We conclude that ELISA tests should be recommended for routine detection of Chagas disease and that for this purpose, a net of laboratories under the direction of a national reference center should exist. This center should assess new commercial products, train technicians and supervise the laboratories
Asunto(s)
Enfermedad de Chagas/diagnóstico , Indicadores y Reactivos/análisis , Bancos de Sangre , Ensayo de Inmunoadsorción Enzimática , Pruebas Serológicas , Pruebas Serológicas/instrumentación , Valor Predictivo de las Pruebas , Sensibilidad y EspecificidadAsunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Enfermedades de von Willebrand/diagnóstico , Factor de von Willebrand/análisis , Autorradiografía , Estudios de Casos y Controles , Electroforesis , Anticuerpos/aislamiento & purificación , Radioisótopos de YodoRESUMEN
Para evaluar la activación y agregación plaquetaria en tres grupos de 18 pacientes (mujeres sanas no embarazadas, embarazadas normales y embarazadas con síndrome hipertensivo del embarazo), se determinaron los valores de factor plaquetario-4 en plasma y serotonina intraplaquetaria. Los estudios de variancia y comparaciones múltiples no revelaron diferencias significativas entre los distintos grupos. La alteración de la función plaquetaria no sería un hecho relevante al inicio de la enfermedad hipertensiva del embarazo o, sí ésta existe, no sería reflejada a nivel sistémico. Se discute así la falta de fundamentos para el uso de antiagregantes plaquetarios para la prevención o control de esta enfermedad