Umbilical artery thrombosis risk factors and perinatal outcomes.

PURPOSE: The purpose of this study was to investigate the risk factors for umbilical artery thrombosis (UAT) and the relationship between umbilical artery thrombosis and perinatal outcomes. METHODS: This was a retrospective study that enrolled singleton pregnant women who were diagnosed with umbilical artery thrombosis. The control group recruited pregnant woman with three umbilical vessels or those with isolated single umbilical artery (iSUA) who were matched with umbilical artery thrombosis group. The risk factors and perinatal outcomes were compared between the groups. RESULTS: Preconception BMI (OR [95%CI]: 1.212 [1.038-1.416]), abnormal umbilical cord insertion (OR [95%CI]: 16.695 [1.333-209.177]) and thrombophilia (OR [95%CI]: 15.840 [1.112-223.699]) were statistically significant risk factors for umbilical artery thrombosis. An elongated prothrombin time (OR [95%CI]: 2.069[1.091-3.924]) was strongly associated with the occurrence of UAT. The risks of cesarean delivery, preterm birth, fetal growth restriction, neonatal asphyxia, and intraamniotic infection were higher in pregnancies with UAT than in pregnancies with three umbilical vessels or isolated single umbilical artery (P<0.05). Additionally, the incidence of thrombophilia was higher in pregnant women with umbilical artery thrombosis than those with isolated single umbilical artery (P = 0.032). Abnormal umbilical cord insertion was also found to be associated with an elevated risk of iSUA (OR [95%CI]: 15.043[1.750-129.334]). CONCLUSIONS: Abnormal umbilical cord insertion was the risk factor for both umbilical artery thrombosis and isolated single umbilical artery. The pregnancies with umbilical artery thrombosis had a higher risk of the adverse perinatal outcomes.

Ictus isquémico presumiblemente perinatal: factores de riesgo, hallazgos clínicos y radiológicos / Presumed perinatal ischemic stroke: risk factors and clinical and radiological findings

Introducción. El ictus isquémico presumiblemente perinatal es una causa frecuente de secuelas neurológicas importantes. Los objetivos del estudio son describir las características clínicas y los factores de riesgo implicados, y analizar las diferencias según su origen vascular. Pacientes y métodos. Estudio descriptivo retrospectivo que incluye pacientes con diagnóstico de ictus isquémico presumiblemente perinatal atendidos en un hospital terciario entre 1990-2015. Resultados. Se incluyeron 44 pacientes: 24 (55%) fueron de origen arterial, frente a 20 (45%) de origen venoso. El diagnóstico fue significativamente más tardío en los de origen venoso que en los de origen arterial (14 y 8 meses respectivamente; p = 0,025). La mayoría comenzó con un déficit motor (90%), y las crisis epilépticas y el retraso psicomotor global fueron menos frecuentes en ambos grupos (< 5%). La prevalencia de epilepsia posterior fue significativamente más frecuente entre los de origen arterial (p = 0,020). Se analizaron los factores de riesgo teóricamente implicados en su patogenia: prenatales, obstétricos, perinatales, protrombóticos y cardíacos, sin hallarse diferencias significativas en la presencia de éstos entre los infartos arteriales y los venosos. Encontramos la presencia de al menos una alteración en el estudio de hipercoagulabilidad en el 48,3% de los pacientes. Conclusión. Es preciso investigar el papel que desempeñan los factores de riesgo implicados en el ictus isquémico presumiblemente perinatal para establecer medidas preventivas. Su diagnóstico es más tardío si el origen es venoso (AU)

Introduction. Presumed perinatal ischemic stroke is a frequent cause of neurological sequelae. We aimed to describe the different clinical findings and risk factors and to analyse the differences according the vascular origin. Patients and methods. Retrospective, descriptive study of patients diagnosed with presumed perinatal ischemic stroke attended at a tertiary pediatric hospital from 1990 to 2015. Results. 44 patients were included. A total of 24 patients (55%) had arterial ischemic stroke and 20 (45%) had periventricular venous infarction. Delay in diagnosis was significantly higher in patients with periventricular venous infarction compared to those with arterial ischemic stroke (14 and 8 months respectively; p = 0.025). Most patients presented with asymmetrical motor development (90%), only < 5% with seizures or non motor delays. Subsequent epilepsy at follow-up was significantly more prevalent in arterial ischemic stroke group (p = 0.020). We determined risk factors theoretically involved in the pathogenesis of presumed perinatal ischemic stroke: prenatal, obstetrical, perinatal, prothrombotic and cardiac. No significant differences between risk factors and vascular origin were found. Prothrombotic abnormalities were common (48.3%). Conclusions. Investigation in risk factors implicated in presumed perinatal ischemic stroke is required to develop prevention strategies. Delay in diagnosis is higher in periventricular venous infarction group (AU)

Controversias en trombofilia / Controversies in thrombophilia

No disponible

Trombofilia, complicaciones vasculares gestacionales, criterios de elegibilidad y consejo anticonceptivo / Thrombophilia, gestational vascular complications, eligibility criteria, and contraceptive counseling

Objetivo: detectar mujeres con alguna complicación vascular gestacional posiblemente relacionada con trombofilia y realizar consejo anticonceptivo. Material y métodos: estudio prospectivo descriptivo que incluye todas las complicaciones vasculares gestacionales del 2012 en el Hospital Clínico Universitario Lozano Blesa de Zaragoza. Se realizó estudio de trombofilia genética, plasmática y de factores de riesgo trombótico. Se ofrecen recomendaciones de hábitos de vida y anticoncepción basadas en los criterios de elegibilidad de la Organización Mundial de la Salud. Resultados: de 351 mujeres aceptan participar 136. 46,7% presentaban al menos un factor de riesgo trombótico diferente de trombofilia. 38,2% presentaban trombofilia, siendo el 90,4% defectos únicos. Para el consejo anticonceptivo se han utilizado los criterios de elegibilidad de la Organización Mundial de la Salud así como las preferencias de cada mujer, individualizándose su riesgo, según también otros factores de riesgo trombótico. Conclusiones: la trombofilia en la obstetricia es un tema en auge, el estudio de esta asociación podría ser útil para ofrecer recomendaciones para futuras gestaciones, anticoncepción y profilaxis de enfermedad tromboembólica venosa (AU)

Objective: Pregnancy vascular complication probably related with maternal thrombophilia detection and contraceptive counsel. Material and Methods: Prospective and descriptive study including every pregnancy vascular complication in 2012 in the University Clinical Hospital Lozano Blesa of Zaragoza. A thrombophilia plasmatic and genetic, and thrombosis risk factors was accomplished. Some life habits recommendations and contraception counsel based in elegibility World Health Organization criteria were given to women. Results: From 351 women 136 agree to participate. 46.7% of patients present at least one trombotic different risk factor of thrombophilia. 38.2% present thrombophilia being the 90.4% only defaults. Contraceptive counsel were given based on World Health Organization elegibility criteria, as women preferences and individual risk according to other thrombotic risk factors. Conclusions: Thrombophilia in Obstetrics is a booming topic, this association study can be used to future pregnancy recommendations, contraception counsel and thromboprophylaxis (AU)

Actuación ante la trombosis portal no cirrótica no tumoral / Treatment of non-cirrhotic, non-tumoural portal vein thrombosis

La trombosis del eje esplenoportal (TVP) no asociada a cirrosis hepática o neoplasias es una enfermedad rara con prevalencia que oscila entre el 0,7 y el 3,7 por 100.000 habitantes. Sin embargo, es la segunda causa de hipertensión portal. Hasta el 70% de los pacientes presentan factores protrombóticos como causa subyacente y entre el 10 y el 50%, factores locales. Es frecuente la coexistencia de varias entidades etiológicas. La presentación clínica puede ser aguda o crónica (cavernomatosis portal). La fase aguda se puede manifestar como dolor abdominal, náuseas, vómitos, fiebre, rectorragia, congestión intestinal e isquemia. Es esencial el inicio precoz de la anticoagulación en esta fase para conseguir la recanalización portal y, con ello, mejorar el pronóstico del paciente. En la fase de cavernomatosis portal, los síntomas vienen derivados del síndrome de hipertensión portal. En esta fase el tratamiento va dirigido a tratar o prevenir las complicaciones de la hipertensión portal. La anticoagulación quedará reservada a aquellos pacientes en los que se demuestre un factor trombofílico subyacente

Thrombosis of the splenoportal axis not associated with liver cirrhosis or neoplasms is a rare disease whose prevalence ranges from 0.7 to 3.7 per 100,000 inhabitants. However, this entity is the second most common cause of portal hypertension. Prothrombotic factors are present as an underlying cause in up to 70% of patients and local factors in 10-50%. The coexistence of several etiological factors is frequent. Clinical presentation may be acute or chronic (portal cavernomatosis). The acute phase can present as abdominal pain, nausea, vomiting, fever, rectorrhagia, intestinal congestion, and ischemia. In this phase, early initiation of anticoagulation is essential to achieve portal vein recanalization and thus improve patient prognosis. In the chronic phase, symptoms are due to portal hypertension syndrome. In this phase, the aim of treatment is to treat or prevent the complications of portal hypertension. Anticoagulation is reserved to patients with a proven underlying thrombophilic factor

Resultados gestacionais e trombofilias em mulheres com historia de obito fetal de repeticao / Pregnancy outcome and thrombophilia of women with recurrent fetal death

OBJETIVO: Descrever desfechos obstétricos e frequência de trombofilias em gestantes com óbito fetal de repetição após a 20a semana de gravidez. MÉTODOS: Avaliação de desfechos obstétricos em uma série de casos de gestantes com óbito fetal de repetição após a 20a semana de gestação, acompanhadas de 2001 a 2013. A atividade de antitrombina, atividade da proteína C e S, presença de fator V de Leiden, presença da mutação do gene de protrombina e presença de síndrome antifosfolípide foram avaliadas nessas pacientes. RESULTADOS: Foram incluídas 20 pacientes que tinham óbito fetal de repetição. Trombofilias foram encontradas em 11 delas, sendo 7 diagnosticadas como síndrome antifosfolípide, 3 como deficiência de proteína S e 1 como mutação do gene da protrombina. Todas foram tratadas com heparina subcutânea (heparina não fracionada ou enoxaparina) e 14 delas com ácido acetilsalicílico (AAS) durante toda a gestação. Complicações obstétricas ocorreram em 15 pacientes e incluíram: restrição de crescimento fetal intrauterino (25%), placenta prévia (15%), índice de líquido amniótico diminuído (25%), pré-eclâmpsia grave (10%), sofrimento fetal (5%) e óbito fetal (5%). A idade gestacional média do parto foi de 35,8±3,7 semanas e o peso dos recém-nascidos foi, em média, de 2.417,3±666,2 g. CONCLUSÃO: A pesquisa de trombofilias deve ser realizada em todas as gestantes com óbitos fetais de repetição após a 20a semana de gestação, como forma de identificar possíveis fatores causas passíveis de tratamento. .

PURPOSE: To evaluate pregnancy outcome and thrombophilia frequency in women with recurrent fetal death. METHODS: Evaluation of obstetric outcomes in a retrospective cohort of pregnant women with recurrent stillbirth after the 20th week, from 2001 to 2013. Antithrombin activity, protein C and S activity, factor V Leiden, prothrombin gene mutation and antiphospholipid syndrome were analyzed. RESULTS: We included 20 patients who had recurrent fetal death. Thrombophilia were found in 11 of them, 7 diagnosed with antiphospholipid syndrome, 3 with protein S deficiency and 1 with prothrombin gene mutation. All of them were treated with subcutaneous heparin (unfractionated heparin or enoxaparina) and 14 of them with acetylsalicylic acid (AAS) during pregnancy. Obstetric complications occurred in 15 patients and included: intrauterine fetal growth restriction (25%), placenta previa (15%), reduced amniotic fluid index (25%), severe preeclampsia (10%), fetal distress (5%), and stillbirth (5%). The mean gestational age at delivery was 35.8±3.7 weeks and newborn weight averaged 2,417.3±666.2 g. CONCLUSION: Thrombophilia screening should be performed in all pregnant women with recurrent fetal death after the 20th week as a way to identify possible causal factors suitable for treatment. .

Activated Protein C Anticoagulant System Dysfunction and Thrombophilia in Asia

Thrombophilia that is common among Caucasians is caused by genetic polymorphisms of coagulation factor V Leiden (R506Q) and prothrombin G20210A. Unlike that in Caucasians, thrombophilia that is common in the Japanese and Chinese involve dysfunction of the activated protein C (APC) anticoagulant system caused by abnormal protein S and protein C molecules. Approximately 50% of Japanese and Chinese individuals who develop venous thrombosis have reduced activities of protein S. The abnormal sites causing the protein S molecule abnormalities are distributed throughout the protein S gene, PROS1. One of the most common abnormalities is protein S Tokushima (K155E), which accounts for about 30% of the protein S molecule abnormalities in the Japanese. Whether APC dysfunction occurs in other Asian countries is an important aspect of mapping thrombophilia among Asians. International surveys using an accurate assay system are needed to determine this.

Enfermedad cerebrovascular en la infancia. Análisis retrospectivo de los ingresos hospitalarios en los últimos diez años en un hospital terciario de la Comunidad Valenciana / Cerebrovascular disease in childhood: a retrospective analysis of hospital admissions in a tertiary hospital in the community of Valencia in the last ten years

Introducción: En los últimos años ha aumentado el interés por el ictus en la infancia. La revisión de la literatura aporta poca información sobre factores de riesgo y otros aspectos de interés clínico. El objetivo es describir las características del ictus en niños con el objetivo de identificar factores de riesgo, presentación clínica y el pronóstico. Pacientes y métodos: Se llevó a cabo un estudio retrospectivo entre los pacientes ingresados en el hospital La Fe entre enero de 2000 y septiembre de 2010 con los diagnósticos de ictus, isquémicos o hemorrágicos. Resultados: Un total de 76 pacientes cumplían los criterios de inclusión, 44,7% presentaron un ictus isquémico y 55,3% fue hemorrágico. La edad media de presentación fue de 6,8 años, 8,4 años para los hemorrágicos y 4,7 años para los isquémicos. La cefalea fue el síntoma de presentación más frecuente. El principal factor de riesgo fue la malformación vascular en los ictus hemorrágicos y las vasculopatías y cardiopatías en los isquémicos. En 34 pacientes se llevó a cabo un estudio de trombofilia y en un 64,7%, de estos, el estudio fue positivo. Respecto al pronóstico, el 17% de los pacientes falleció, solamente tres pacientes presentaron una epilepsia secundaria y el 31 y 60% de los infartos hemorrágicos e isquémicos, respectivamente, desarrollaron una hemiparesia. Conclusiones: En este estudio hemos identificado los principales factores de riesgo, así como edad de presentación, sintomatología y pronóstico. Queremos destacar la edad de presentación más precoz en los ictus isquémicos frente a los hemorrágicos(AU)

Introduction: There has been increasing interest in stroke in children in the last few years. A literature review produced little information on risk factors and other clinical questions. The aim of this study is to describe the characteristics of stroke in children, mainly in order to identify the risk factors, clinical presentation and outcomes. Patients and methods: A retrospective study was conducted on patients admitted to the Hospital La Fe in Valencia between January 2000 to September 2010 with the diagnosis of ischaemic or haemorrhagic stroke. Results: A total of 76 patients were identified, of whom 44.7% had an ischaemic stroke and 55.3% had a haemorrhagic one. The average age of presentation was 6.8 years; 8.4 years for haemorrhagic strokes and 4.7 years for ischaemic strokes. Headache was the most frequent symptom of presentation. The most frequent risk factor was vascular malformations in haemorrhagic cerebral stroke, and vascular and cardiac disorders in ischaemic stroke. A study of prothrombotic factors was conducted on 34 patients, which was positive in 64.7% of them. As regards outcome, 17% of the patients died; only 3 patients had a secondary epilepsy, and 31% and 60% of the haemorrhagic and ischaemic stokes, respectively, had a hemiparesis. Conclusions: In this study we identified the principal risk factors as well as, the age of presentation, symptomatology and outcome. We would like to emphasise that the age of presentation was earlier in ischaemic strokes than in haemorrhagic ones(AU)

Enfermedades hematológicas: desde dentro del corazón / Hematologic diseases: from within the heart

La relación fundamental entre los trastornos sanguíneos y el sistema cardiovascular tiene su origen en múltiples puntos de contacto, que van del corazón y sus componentes estructurales, como las cámaras cardiacas, las válvulas, las arterias coronarias y las venas coronarias, a los vasos sanguíneos cerebrovasculares y periféricos. Mientras que los componentes celulares de la sangre circulante proceden inicialmente de células progenitoras pluripotenciales, los componentes plasmáticos, que incluyen las proteínas de la coagulación, se originan principalmente en la síntesis hepática y las células endoteliales. Presentamos aquí una revisión centrada en los trastornos hematológicos no oncológicos y sus posibles repercusiones en el sistema circulatorio arterial en forma de fenotipos frecuentes, como el infarto de miocardio, el ictus isquémico y los episodios de oclusión arterial periférica. En nuestro análisis utilizamos la tromboembolia venosa como patrón de referencia clínico. Presentamos también unos pasos prácticos y una guía para las pruebas diagnósticas y el manejo en la práctica clínica habitual (AU)

The fundamental relationship between blood disorders and the cardiovascular system originates within multiple points of interface, ranging from the heart and its structural constituents to include heart chambers, valves, coronary arteries, coronary veins, and the cerebrovascular and peripheral vasculature. While the cellular components of circulating blood derive their primary origin from multipotent progenitor cells, plasma-based components, which include coagulation proteins, are mostly born of hepatic synthesis and endothelial cells. Here we provide a focused overview of nononcological blood disorders and their potential impact on the arterial circulatory system as common phenotypes, including myocardial infarction, ischemic stroke and peripheral arterial occlusive events. Venous thromboembolism is employed in our discussion as a clinical template. We also provide practical steps and guidance for diagnostic testing and management in routine clinical practice (AU)

Infarto cerebral en recién nacido a término: a propósito de un caso / Cerebral infarction in full-term newborn: a case report

El periodo neonatal es una época de riesgo aumentada para la aparición de infartos isquémicos cerebrales, con una incidencia de aproximadamente 1 por cada 4.000 recién nacidos a término. La forma de presentación más frecuente son las crisis en las primeras 48-72 horas de vida. Los factores de riesgo incluyen alteraciones trombóticas hereditarias o adquiridas y factores ambientales. Las nuevas técnicas de neuroimagen han facilitado el diagnóstico precoz de esta patología (AU)

The few days before and after birth are a time of special risk for stroke in both mother and infant, probably related to activation of coagulation mechanisms in this critical period. Arterial ischaemic stroke around the time of birth is recognized in about one in 4,000 full-term infants. Neonatal seizures are most commonly the clinical finding that triggers assessment. Risk factors for perinatal stroke include hereditary or acquired thrombophilia’s and environmental factors. Perinatal arterial (ischemic) stroke (PAS) is more often recognized with the increased use of sophisticated neuroimaging tecniques (AU)

Rol de las trombofilias en infertilidad: ¿juegan un rol? / The role of thrombophilias in infertility: do they have a role?

Las trombofilias son un grupo de enfermedades que favorecen la formación de trombosis, tanto arteriales como venosas, y han sido asociadas con diferentes complicaciones durante el embarazo, entre las cuales podemos mencionar: aborto recurrente, preclampsia, restricción de crecimiento intrauterino y muerte fetal in útero, entre otras. Recientemente, se ha sugerido una asociación entre trombofilias e infertilidad. Las mutaciones de la enzima Metilentetrahidrofolato Reductasa (MTHFR) y de Leiden se encuentran con mayor frecuencia en pacientes con infertilidad de causa desconocida, al compararlas con grupos controles. Durante la etapa de estimulación ovárica diversas trombofilias han sido vinculadas con la aparición de sindrome de hiperestimulación ovárica severo. Por último, las pacientes con historia de falla recurrente de implantación, luego de múltiples ciclos de fertilización in Vitro, demuestran una mayor prevalencia de trombofilias que las pacientes con éxito en dichas terapias. Este artículo presenta una revisión de las publicaciones relevantes que abordaran los distintos aspectos de la relación entre trombofilias e infertilidad hasta agosto de 2009. El objetivo es describir los estudios utilizados y sus implicancias en el manejo de la pareja infértil.

Thrombophilias are a group of conditions that favor the genesis of arterial/venous thrombosis. Several complications throughout pregnancy have been associated with trhombophilias, including recurrent spontaneous abortion, preeclampsia, intrauterine growth restriction and fetal demise. Recently, an asociation has been sugested between infertility and thrombophilias, involving diferent aspects of the infertile couple therapy. MTHFR and Leiden mutations can be found more frecuently in patients with diagnosis of unknown infertility when compared with control groups. During ovarian estimulation, thrombophilias have been linked with severe ovarian hiperstimulation syndrome. Furthermore, patients with recurrent implantation failure after in vitro fertilization therapy show a higher rate of thrombophilias than patients with succesful IVF therapy. A review of the relevant publications concerning the topic thrombophilia and infertility until august 2009 is presented in this article. The aim of this article is to describe the results of the studies and its relevance in the infertile couple treatment.

Pesquisa de marcadores de trombofilia em eventos trombóticos arteriais e venosos: registro de 6 anos de investigação / Research on thrombophilic factors in arterial and venous thrombotic events: a 6-year investigation register

CONTEXTO: Os autores apresentam uma análise epidemiológica sobre a investigação de marcadores de trombofilia em pacientes que apresentaram eventos trombóticos arteriais e/ou venosos acompanhados no Departamento de Angiologia e de Cirurgia Vascular do CENTERVASC no período de janeiro de 2001 a janeiro de 2007. OBJETIVO: Avaliar a prevalência de marcadores de trombofilias congênitas ou adquiridas nos eventos trombóticos venosos e/ou arteriais. MÉTODOS: Entre janeiro de 2001 e janeiro de 2007, 224 pacientes com eventos trombóticos venosos e/ou arteriais foram submetidos a uma rotina de investigação quanto à presença ou não de marcadores de trombofilia, independentemente da idade e história familiar dos pacientes, topografia do evento e presença ou ausência de fatores trombogênicos extrínsecos. RESULTADOS: Foram detectados marcadores de trombofilia em 112 pacientes (50 por cento dos casos). Nestes, observou-se de modo predominante a positividade para anticorpos antifosfolipídios, anticardiolipina e/ou anticoagulante lúpico (39 casos), bem como a presença do fator V de Leiden (43 casos). O sistema venoso foi significativamente o mais acometido, e a ocorrência associada com condições trombogênicas extrínsecas esteve presente em 56 (50 por cento) dos portadores de marcadores de trombofilias. CONCLUSÕES: A presença de marcadores de trombofilia nos pacientes com eventos trombóticos, venosos e/ou arteriais, independentemente da faixa etária ou da existência de fatores extrínsecos associados, foi significativa.

BACKGROUND: Authors report an epidemiological analysis of the investigation on thrombophilic factors in patients presenting with arterial and/or venous thrombotic events followed at the Angiology and Vascular Surgery Department at CENTERVASC, from January 2001 to January 2007. OBJECTIVE: To assess the prevalence of congenital or acquired thrombophilic markers in venous and/or arterial thrombotic events. METHODS: From January 2001 to January 2007, 224 patients with venous and/or arterial thrombotic events were screened for the presence of congenital or acquired thrombophilic markers independently of age and family history, location of thrombus and presence or absence of other thrombogenic factors. RESULTS: Thrombophilic factors were present in 112 patients (50 percent of the cases), in whom predominant positive results for antiphospholipid, anticardiolipin and/or lupus anticoagulant antibodies (39 cases) as well as the presence of factor V Leiden (43 cases) were observed. The venous system was the most significantly affected, and other associated thrombogenic factors were present in 56 (50 percent) carriers of genetic thrombophilic factors. CONCLUSION: The presence of genetic thrombophilic factors in patients with venous and/or arterial thrombotic events, independently of age or presence of other associated factors, was significant.

Estudios de hipercoagulabilidad en oftalmología. ¿Qué pedir y cuándo? / Hypercoagulable workup in ophthalmology. When and What?

La mayoría de los trastornos oftalmológicos secundariosa hipercoagulabilidad se deben a la confluenciade factores congénitos y adquiridos. Dada la multitudde test diagnósticos existentes se hace precisouna sistematización de la solicitud de los mismos.La mayoría de los trastornos congénitos de la coagulaciónproducen trombosis venosas y son deherencia autosómica dominante. Los más frecuentesson por este orden la resistencia a la proteína Cactivada (Factor V Leiden), la mutación del gen dela protrombina (G20210A), déficit de proteína Cproteína S y de antitrombina III. La anemia de célulasfalciformes puede acompañarse de fenómenosoclusivos arteriales y venosos.Respecto a las trombosis arteriales, los marcadoresimplicados más frecuentemente son los niveles dehomocisteína en ayunas y los del síndrome de anticuerposantifosfolípidos, aunque ambos producenoclusiones venosas fundamentalmente.Diversos factores adquiridos pueden producir estadoshipercoagulables. Dentro de las entidades másfrecuentes destacamos la hiperhomocisteinemia y elsíndrome de anticuerpos antifosfolípidos, sin olvidarmúltiples circunstancias como patología hepática,ingesta de alcohol, tabaco, anticonceptivos orales,inmovilización, cirugía y enfermedades mieloproliferativas que pueden potenciar su desarrollo.En la oclusión de vena central de la retina sólo seindica descartar hiperhomocisteinemia y síndromede anticuerpos antifosfolípidos en pacientes jóvenessin factor de riesgo conocido.En la embolia de la arteria central de la retina, sólose recomienda estudio en menores de 50 años sinorigen de émbolo detectable (jóvenes con alto riesgo).En este caso se investigará: proteína C, S, antitrombinaIII, homocisteína, electroforesis de hemoglobinay síndrome antifosfolípido.En la neuropatía óptica isquémica no arterítica nose precisan estudios de hipercoagulabilidad(AU)

Ante una amaurosis fugax sin fuente embolígenaconocida se recomienda la búsqueda de alteracionesrelacionadas con oclusiones arteriales, fundamentalmentedéficit de antitrombina III, hiperhomocisteinemia,síndrome antifosfolípido y la enfermedadde células falciformes(AU)

ABSTRACTMost ophthalmologic disorders secondary to hypercoagulabestate are due to the confluence of congenitaland adquired factors. A systematic workup ismandatory.Most of congentital coagulation disorders causevenous trombosis and are inherited autosomaldominantly. In order of frequency these are factor VLeiden mutation (activated protein C resistance),G20210A mutation of the prothrombin gen and proteinC, protein S, and antithrombin III deficiencies.Sickle cell anemia can determine arerial and venousthrombosis.In relation with arterial occlusion, the markers mostfrequently involved are homcysteine fasting levelsand the markers of antiphospholipid antibodysyndrome. Both of them can also determine venousthrombosis.Several acquired factors can lead to hypoercoagulablestate, especially hyperhomocysteinemia, antiphospholipidantibody syndrome, hepatic disease,alcohol and tobacco intake, oral contraceptives,immobilization, surgeries and malignancies.In central venous occlusion is only necessary to ruleout hyperhomocysteinemia and antiphospholipidantibody syndrome in young patients without known risk factors. In central artery occlusion, hypercoagulable workupis only recommended for patients less than 50years-old with unknown emboli source. In thiscases protein C, protein S, and antithrombin IIIdeficiencies, homocystein, sickle cell diseae andantiphospholipid antibody syndrome will ruled out.In non arteritic ischemic optic neuropathy hypercoagulablework up is not necessary.In amaurosis fugax without known emboli source, it is recommended to rule out etiologies of arterial occlusion, especially antithrombin III deficiencies, homocystein, sickle cell diseae and antiphospholipid antibody syndrome(AU)

Trombofilia primaria en México: parte VI: falta de asociación estadística entre las condiciones trombofílicas heredadas / Primary thrombophilia in México: VI: lack of statistical association among the inherited thrombophilic conditions

Objetivo: En un periodo de 70 meses estudiamos de manera prospectiva a 100 pacientes mestizos mexicanos con algún marcador clínico de trombofilia: a) Trombosis antes de los 40 años, b) Historia familiar de trombosis, c) Trombosis recurrente sin la presencia de un factor precipitante aparente, d) Trombosis en sitios anatómicos inusuales, o e) Resistencia a la terapia antitrombótica convencional. Métodos: En estos pacientes, investigamos el síndrome de las plaquetas pegajosas, la mutación 677 C —>T del gen de la 5,10-metilentetrahidrofolato reductasa (MTHFR), el fenotipo de resistencia a la proteína C activada (RPCa), la presencia de anticuerpos antifosfolípidos, las mutaciones Leiden, Cambridge, Liverpool y Hong Kong del gen del factor V, el haplotipo HR2 del mismo gen del factor V, el polimorfismo G20210A de la región 3´-no traducida del gen de la protrombina y las deficiencias de proteínas C y S y de antitrombina III. Resultados: En el 94 % de los casos encontramos por lo menos alguna alteración; de estos casos con alteración, la mayoría (81 %) tuvo dos o más condiciones trombofílicas asociadas. El análisis multivariado de todas estas variables sólo mostró asociación estadística entre la mutación tipo Leiden del gen del factor V y el fenotipo de RPCa (r = .495; p < 0.001). Conclusiones: Se concluye que, realizando este grupo de estudios, es posible identificar alguna alteración trombofílica en la mayoría de los pacientes mestizos mexicanos con algún marcador clínico de trombofilia y que las alteraciones no se asocian entre sí.

OBJECTIVE: Over a 70-month period, 100 consecutive Mexican mestizo individuals with a clinical marker associated with a primary hypercoagulable state were studied. METHODS: We prospectively assessed: the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. RESULTS: Of the 100 consecutive patients prospectively accrued in the study, only 29% were males. In only 6 individuals could we not record any abnormality, whereas in most individuals (81%), two to five co-existing abnormalities were identified. In a multivariate analysis of the association of all these assesments, the only significant association was found between the factor V Leiden mutation and the aPCR phenotype (r = .495; p < 0.001). CONCLUSIONS: These results confirm previous observations on thrombophilia in Mexico underlining that it is a multifactorial disease. They also suggest that the abnormalities detected are not associated to each other.

Prevalência dos fatores trombofílicos em mulheres com infertilidade / Prevalence of thrombophilic factors in infertile women

OBJETIVO: determinar a prevalência dos fatores trombofílicos em mulheres inférteis. MÉTODOS: estudo de corte transversal, no qual foram admitidas mulheres inférteis atendidas em clínica privada e submetidas à investigação de trombofilia, conforme protocolo da referida clínica, no período de março de 2003 a março de 2005, após aprovação do Comitê de Ética e Pesquisa da Universidade Estadual de Campinas (UNICAMP). Foram incluídas mulheres com história de infertilidade, definida como um ano de coito desprotegido sem concepção. Foram excluídas mulheres com hepatopatia e dados incompletos em prontuário, obtendo-se uma amostra de 144 mulheres. Os fatores trombofílicos avaliados foram: o anticorpo anticardiolipina (ACL), o anticoagulante lúpico (ACGL), a deficiência de proteína C (DPC), a deficiência de proteína S (DPS), a deficiência de antitrombina III (DAT), a presença do fator V de Leiden, uma mutação no gene da protrombina e a mutação do metileno tetrahidrofolato redutase (MTHFR). Resultados: os valores de prevalência obtidos para ACL e ACGL foram de 2 por cento. A prevalência dos fatores trombofílicos hereditários foram: DPC=4 por cento, DPS=6 por cento, DAT=5 por cento, fator V de Leiden=3 por cento, mutação da protrombina=3 por cento e mutação MTHFR=57 por cento. CONCLUSÕES: das 144 pacientes selecionadas, 105 mulheres, ou seja, 72,9 por cento apresentavam pelo menos um fator trombofílico presente. Isto reforça a importância e justifica a necessidade da investigação destes fatores neste grupo de mulheres.

PURPOSE: to establish the prevalence of thrombophilic factors in infertile women. METHODS: a cross-sectional study was performed, in which infertile women, seen in a private clinic with investigation for thrombophilia were included, according to the protocol of the clinic, between March 2003 and March 2005, after the approval of the Research Ethics Committee of the Universidade Estadual de Campinas (UNICAMP). One hundred and forty-four infertile women without any liver disease were evaluated. Infertility is defined as one year of unprotected sexual intercourse without conception. The acquired and/or inherited thrombophilic factors investigated were: anticardiolipin antibody (aCL), lupus anticoagulant (LA), protein C deficiency (PCD), protein S deficiency (PSD), antithrombin III deficiency (ATD), presence of the factor V Leiden, mutation G20 210A in the prothrombin gene, and C677T mutation of methylene tetrahydrofolate reductase (MTHFR). RESULTS: the prevalence values obtained for aCL and LA were 2 percent. The prevalence of the hereditary thrombophilic factors were: PCD=4 percent, PSD=6 percent, ATD=5 percent, factor V Leiden=3 percent, prothrombin mutation=3 percent, MTHFR mutation=57 percent. Conclusions: of the 144 patients selected, 105 women (72.9 percent) presented at least one thrombophilic factor. This reinforces the importance and justifies the need of investigation in this group.

Trombofilia y foramen oval permeable en pacientes jóvenes afectos de ictus isquémico / Thrombophilia and patent foramen ovale in young stroke patients

Introducción. El foramen oval permeable (FOP) es un factor de riesgo vascular en pacientes jóvenes afectos de un ictus isquémico. Objetivos. Estudiar la prevalencia de trombofilia en pacientes jóvenes con ictus portadores de FOP. Métodos. Estudio prospectivo de 130 pacientes (58,5% mujeres; edad media: 34; rango: 15-45 años) admitidos consecutivamente en el hospital durante 2002-2003. Todos ellos realizaron un ecocardiograma, Doppler transcraneal con test de burbujas, eco-Doppler de carótidas, tomografía y/o resonancia y un estudio de trombofilias que incluyó vdrl, anticuerpos antinucleares, anticardiolipina, anticoagulante lúpico, proteína C y S, antitrombina, resistencia a proteína C activada, homocisteína, factor V de Leiden y análisis de la mutación para el gen de la tetrahidrofolato-metil-reductasa (THFMR). El ictus se clasificó según criterios TOAST. Resultados. La etiología del ictus fue: criptogénico (67 %), cardioembolismo (14,6 %), aterotrombótico (8,5 %), pequeño vaso (3,8%) y otras causas (5,4%). El 32,3% (42 pacientes) era portador de un FOP. El 41% de los pacientes con ictus criptogénico tenía un FOP, mientras que estaba presente en el 14,3 % de pacientes con ictus de causa conocida (p<0,01; OR: 4,15; IC 95 %: 1,47-12,29). El 23,8 % de los pacientes portadores de FOP (10/42) sufría migraña, mientras que el 9,1 % de los sujetos sin foramen la padecía (OR: 3,13; IC 95%: 1,02-9,69; p=0,02). La prevalencia de trombofilia en los subgrupos de pacientes portadores de foramen y sin él, en jóvenes con ictus criptogénico y de causa conocida y en pacientes con ictus criptogénico con y sin foramen fue similar. Conclusiones. La trombofilia no parece ser un factor adicional de riesgo de ictus en pacientes jóvenes con ictus criptogénico y FOP (AU)

Introduction: Patent foramen ovale (PFO) is a vascular risk factor in young stroke patients. Objective: [corrected] We sought to analyze the prevalence of thrombophilia in young stroke patients with patent foramen ovale (PFO). Methods: Prospective study; a total of 130 consecutive young stroke patients (female: 58.5 %; mean age: 34; range: 15-45 years) consecutively admitted to the hospital during 2002-2003. All patients underwent a diagnostic protocol including echocardiogram, carotid echodoppler, transcranial doppler with bubble test, brain tomography scan or magnetic resonance imaging. Thrombophilia studies included fasting plasma levels of protein C, protein S, antithrombin III, lupus anticoagulant, anticardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, and genetic testing for the factor V Leiden and C677T methylene tetrahydrofolate reductase mutations. Stroke subtype classification was done according to TOAST criteria. Results: Etiology of stroke was: cryptogenic (67 %), cardioembolism (14.6 %), large artery atherosclerosis (8.5 %), small vessel occlusion (3.8 %) and other causes (5.4 %). 42 patients (32.3 %) had a PFO; 41 % of cryptogenic stroke patients had a PFO while 14.3 % of known cause stroke patients had a positive PFO (p = 0.003; OR: 4.15; IC 95%: 1.47-12.29). 23.8 % of positive PFO patients (10/42) had migraine, while 9.1 % negative PFO patients suffered migraine (OR: 3.13; CI 95 %: 1.02- 9.69; p=0.023). Prevalence of thrombophilia in positive and negative PFO patients, in young with cryptogenic stroke and stroke patients with known etiology, and in cryptogenic stroke patients with and without PFO was similar. Conclusions: Thrombophilia does not seem to be an additional factor to the excess of risk observed in young patients with cryptogenic stroke and PFO (AU)

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9 percent) and TAFI T1053C (74 percent) and low frequencies of FVL (1.6 percent), FII G20210A (0.8 percent) and TAFI A152G (0.8 percent). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of European descent living in the city of Ribeirão Preto in the Brazilian state of São Paulo. The frequency of the two TAFI mutations in the Belém individuals was not significantly different from that described for individuals from Ribeirão Preto. We suggest that the risks for VTE in the population of Belém are of the same magnitude as that observed in European populations and in populations with an expressive European contribution.

Creación del acceso vascular / No disponible

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