Isquemia intestinal, una manifestación inusual de la embolia paradójica. Un reporte de caso / Intestinal ischaemia as a rare manifestation of a paradoxical embolism. A case report

Introducción. La embolia paradójica es un evento trombótico originado en la circulación venosa, que se manifiesta como embolismo arterial por medio de un defecto anatómico a nivel cardíaco o pulmonar. Se asocia principalmente a eventos cerebrovasculares, aunque se han encontrado casos de infarto agudo de miocardio, infarto renal y otros eventos isquémicos. Caso clínico. Paciente de 47 años, quien consultó por cuadro de dolor abdominal, que requirió manejo quirúrgico de urgencia, donde identificaron isquemia intestinal importante. Los estudios adicionales hallaron déficit de proteína S y persistencia de foramen oval permeable. Resultados. La presencia de trombosis arterial se conoce como trombosis de sitios inusuales y requiere de estudios para descartar trombofilias asociadas u otros estados protrombóticos. El déficit de proteína S es una trombofilia infrecuente, la cual se asocia en la vida adulta a eventos trombóticos de origen venoso. En presencia de defectos anatómicos, como un foramen oval permeable, puede progresar a embolia arterial, configurando un cuadro de embolismo paradójico. La estratificación de estos pacientes requiere imágenes que demuestran el defecto mencionado, así como el posible origen de los émbolos. El manejo se basa en anticoagulación plena, manejo de soporte, resolver las manifestaciones trombóticas existentes y un cierre temprano del defecto anatómico. Conclusiones. El embolismo paradójico debe sospecharse en caso de trombosis de sitios inusuales. Requiere de un estudio exhaustivo con imágenes y su manejo debe basarse en anticoagulación y cierre del defecto.

Introduction. Paradoxical embolism is a thrombotic event originating in the venous circulation, which manifests as arterial embolism through an anatomical cardiac or pulmonary defect. It is mainly associated with stroke, also presenting as acute myocardial infarction, renal infarction, and other ischemic events. Clinical case. A 47-year-old patient was admitted due to abdominal pain, which required emergency surgical management, finding significant intestinal ischemia. Additional studies found protein S deficiency and evidence of a patent foramen ovale. Discussion. Arterial thrombosis is known as unusual thrombosis; this situation requires to rule out associated thrombophilia or other prothrombotic diseases. Protein S deficiency is a rare thrombophilia, which in adults causes venous thrombosis. In the presence of anatomical defects, such as a patent foramen ovale, it can progress to arterial embolism, presenting a picture of paradoxical embolism. The study work of these patients requires imaging that demonstrates the aforementioned defect, as well as the possible origin of the emboli. Management is based on full anticoagulation, treatment of existing thrombotic manifestations, and management of the anatomical defect. Conclusions. Paradoxical embolism should be suspected in case of unusual thrombosis. It requires exhaustive studies based on imaging, and management should consist of anticoagulation and closure of the defect.

Manejo de la trombosis venosa cerebral en España: estudio descriptivo MOTIVATE / Management of cerebral venous thrombosis in Spain: MOTIVATE descriptive study

Introducción: La trombosis venosa cerebral (TVC) es una causa poco común de ictus que afecta principalmente a adultos jóvenes. Un diagnóstico precoz y preciso puede reducir la tasa y gravedad de las complicaciones. Objetivo: Analizar las características clínicas, manejo y tratamiento de la TVC en diferentes centros de nuestro país. Métodos: Estudio descriptivo retrospectivo multicéntrico de pacientes hospitalizados por TVC entre 2008 y 2017 en 11 centros sanitarios en nuestro país. Resultados: Se incluyeron 256 pacientes, edad media 49,8 ± 18,7 años y el 51% fueron mujeres. Los síntomas más frecuentes fueron: cefalea (73%), déficits focales (50%), crisis epilépticas (33%) y encefalopatía (21%). Las localizaciones más frecuentes fueron: seno longitudinal superior (12,5%), transverso (10,9%) y afectación de dos o más senos o venas (66,4%). La etiología conocida más frecuente fue la trombofilia (24%), siendo la mutación de la protrombina G20210A la más común (19%). El 46% fue tratado con antitrombóticos durante 3-6 meses, el 21% durante un año y un 22,6% de los pacientes requirieron anticoagulación indefinida. En un 5% de los sujetos fue preciso terapia endovascular y un 33% requirió neurocirugía. En relación al pronóstico, el 75% fueron independientes a los 3 meses con una puntuación en la escala de Rankin modificada (mRS) ≤ 2 y la presencia de papiledema (p = 0,03), déficit focal (p = 0,001) y encefalopatía (p < 0,001) se relacionaron significativamente con mal pronóstico (mRS > 3). La tasa de mortalidad intrahospitalaria fue del 4,3% y el 6,3% de los pacientes fallecieron a los 3 meses. Conclusión:La diversidad de factores de riesgo y la presentación variable suponen un desafío en el diagnóstico y tratamiento de la TVC. Para mejorar el pronóstico y reducir la mortalidad es fundamental la instauración de protocolos en el manejo de esta patología.(AU)

Introduction: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults. Early, accurate diagnosis can reduce the rate and severity of complications. Objective: The aim of this study was to analyse the clinical characteristics, management, and treatment of CVT in different centres in Spain. Methods: We conducted a multicentre, retrospective, descriptive study of patients hospitalised due to CVT between 2008 and 2017 at 11 Spanish centres. Results: We included 256 patients, with a mean age (SD) of 49.8 (18.7) years; 51% of patients were women. The most frequent symptoms were headache (73%), focal deficits (50%), epileptic seizures (33%), and encephalopathy (21%). The most frequent localisations were the superior sagittal sinus (12.5%), the transverse sinus (10.9%), and 2 or more sinuses or veins (66.4%). Thrombophilia was the most frequent known aetiology (24%), and was most commonly associated with the prothrombin G20210A mutation (19%). Forty-six percent of patients were treated with antithrombotics for 3-6 months, 21% for one year, and 22.6% required indefinite anticoagulation. Endovascular therapy was performed in 5% of cases, and 33% required neurosurgery. Regarding outcomes, 75% of patients were independent at 3 months (modified Rankin Scale [mRS] score ≤ 2), with papilloedema (P = .03), focal deficits (P = .001), and encephalopathy (P < .001) showing a statistically significant association with poor prognosis (mRS > 3). The in-hospital mortality rate was 4.3%, with a 3-month mortality rate of 6.3%. Conclusion: The diverse risk factors and variable presentation of CVT represent a challenge in the diagnosis and treatment of this condition. To improve prognosis and reduce mortality, it is essential to establish management protocols for this entity.(AU)

Management of cerebral venous thrombosis in Spain: MOTIVATE descriptive study.

INTRODUCTION: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults. Early, accurate diagnosis can reduce the rate and severity of complications. OBJECTIVE: The aim of this study was to analyse the clinical characteristics, management, and treatment of CVT in different centres in Spain. METHODS: We conducted a multicentre, retrospective, descriptive study of patients hospitalised due to CVT between 2008 and 2017 at 10 Spanish centres. RESULTS: We included 256 patients, with a mean age (SD) of 49.8 (18.7) years; 51% of patients were women. The most frequent symptoms were headache (73%), focal deficits (50%), epileptic seizures (33%), and encephalopathy (21%). The most frequent localisations were the superior sagittal sinus (12.5%), the transverse sinus (10.9%), and 2 or more sinuses or veins (66.4%). Thrombophilia was the most frequent known aetiology (24%), and was most commonly associated with the prothrombin G20210A mutation (19%). Forty-six percent of patients were treated with antithrombotics for 3 to 6 months, 21% for one year, and 22.6% required indefinite anticoagulation. Endovascular therapy was performed in 5% of cases, and 33% required neurosurgery. Regarding outcomes, 75% of patients were independent at 3 months (modified Rankin Scale [mRS] score ≤ 2), with papilloedema (P =  .03), focal deficits (P = .001), and encephalopathy (P < .001) showing a statistically significant association with poor prognosis (mRS > 3). The in-hospital mortality rate was 4.3%, with a 3-month mortality rate of 6.3%. CONCLUSION: The diverse risk factors and variable presentation of CVT represent a challenge in the diagnosis and treatment of this condition. To improve prognosis and reduce mortality, it is essential to establish management protocols for this entity.

Sobreexpresión del factor VIII, riesgo de trombosis y tratamiento / Overexpression of factor VIII: risk for thrombosis and treatment

Introducción: la trombosis venosa profunda (TVP) es una enfermedad multifactorial, la cual se ha relacionado con estados de hipercoagulabilidad, alteraciones del flujo sanguíneo y lesiones vasculares endoteliales. Se ha estimado una tasa de incidencia de 1 a 2 casos por mil habitantes año, y casi 2 millones de nuevos casos anuales en Estados Unidos. Existen factores de riesgo establecidos y las trombofilias parecen ocupar un lugar importante en su etiología y los estados de hipercoagulabilidad secundarios a niveles elevados de factor de coagulación VIII asociado a disfunción endotelial, y al incremento de adhesión plaquetaria confieren también una gran predisposición a la aparición de trombosis. Presentación del caso: paciente de 24 años de edad, sin antecedentes de importancia. Consulta por una masa indurada en región axilar derecha, que resultó ser TVP de la vena yugular externa, confluente yugulosubclavio, vena supraclavicular axilar y humeral con alto riesgo de embolización; a su vez se documentó tromboembolia pulmonar y se sospechó trombosis cerebral. La búsqueda de estados procoagulantes no arrojó ningún resultado, posteriormente se mide Factor VIII con sobreexpresión de 223% del valor normal y tras una revisión literaria del tratamiento documentada en el presente artículo se determina que el tratamiento más adecuado es warfarina

Introduction: Deep vein thrombosis (DVT) is a multifactorial medical condition that has been related to hypercoagulable states, alterations in blood flow and lesions in vessel endothelium. The incidence of DVT ranges between 1 and 2 cases per 1000 people and almost two million new cases per year in the United States. Some risk factors have been identified. Thrombophilias seem to play an important role in DVT etiology. Hypercoagulability states secondary to high blood coagulation factor VIII levels associated with endothelial dysfunction and increased platelet adhesion, pose a higher predisposition for thrombosis. Case report: we present the case of a 24-year-old male patient, with no relevant past history, who presented with an indurated mass in the right axillary region, which turned out to be a DVT of the external jugular vein, jugulo-subclavian confluence, supraclavicular, axillary and humeral veins with high risk of embolism. Pulmonary thromboembolism was documented and cerebral venous thrombosis was suspected. The search for procoagulant states yielded no results. Factor VIII levels were measured revealing an overexpression of factor VIII at 223% [normal range 50 ­ 200%]. A literature review determined warfarin to be the proper treatment

Evaluación de parámetros inflamatorios, trombóticos y variantes genéticas en pacientes con ataque cerebrovascular isquémico que se asisten en un hospital de Uruguay

Introducción: El ataque cerebrovascular es la segunda causa de muerte en adultos en el mundo occidental y una de las principales causas de discapacidad permanente, aumentando su frecuencia con la edad, el 85 % es de tipo isquémico. Objetivos: Analizar parámetros trombofílicos, hipofibrinolíticos y genéticos en pacientes con ataque cerebrovascular isquémico y evaluar la posible asociación de estos con factores de riesgo cardiovascular. Metodología: Se utilizó un cuestionario para evaluar la presencia de factores de riesgo cardiovascular en 114 pacientes incluidos en el estudio con diagnóstico de ataque cerebrovascular isquémico. Proteína C y antitrombina fueron determinados mediante métodos cromogénicos, resistencia a la proteína C activada e inhibidor lúpico mediante métodos coagulométricos y proteína S libre, inhibidor del activador del plasminógeno-1, homocisteína y lipoproteína (a) por métodos inmunoquímicos. Fibrinógeno fue determinado por coagulometría y proteína C reactiva por inmunoturbidimetría, ambos contra un grupo control. Las variantes genéticas factor V Leiden, protrombina G20210A, rs1205 (gen PCR), rs1800779 (gen NOS3) y rs2257073 (gen ASB10) fueron analizadas mediante real-time PCR, comparando los últimos tres con una población de referencia. La alteración de las frecuencias de las variables fue determinada por análisis estadístico chi-cuadrado. Resultados: Tres de los cuatro pacientes jóvenes estudiados presentaron indicadores de trombofilia. El resto de los parámetros alterados fueron homocisteína 30.1% (22.4-39.1), lipoproteína (a) 32.1% (24.1-41.4), inhibidor del activador del plasminógeno-1 36.0% (27.8-45.1), fibrinógeno 12.3% (7.5-19.6) y proteína C reactiva 78.1% (69.6-84.7). Se encontró asociación (p < 0.05) entre ciertos factores de riesgo cardiovascular y los parámetros evaluados como hipertensión/proteína C reactiva, dislipemia/lipoproteína (a), arritmia/lipoproteína (a) y arritmia/fibrinógeno. Para pacientes con ataque cerebrovascular isquémico solo la variante rs1205 mostró una frecuencia más alta del alelo T. Conclusiones: Este estudio revela la importancia de analizar la trombofilia en pacientes jóvenes, especialmente en aquellos sin factores de riesgo cardiovascular, así como el rol de la hipofibrinolisis, inflamación y algunas variantes genéticas en el desarrollo de ataque cerebro vascular isquémico.

Introduction: Stroke is the second cause of death in adults in the Western world and one of the main causes of permanent disability, increasing in frequency with age; 85% are ischemic. Objectives: To analyze thrombophilic, hypofibrinolytic, inflammatory, and genetic parameters in patients with ischemic stroke and evaluate possible associations with vascular risk factors. Methodology: Questionnaires were used to evaluate vascular risk factors in 114 patients included in the study with ischemic stroke diagnosis. Protein C and Antithrombin were determined by chromogenic assays, Activated Protein C Resistance and Lupus Anticoagulant were determined with by coagulometry and Free Protein S, Plasminogen activator inhibitor-1, Homocysteine and Lipoprotein (a) by immunochemistry. Fibrinogen was assayed by coagulometry and C-reactive protein by immunoturbidimetry, both against a control group. Factor V Leiden, Prothrombin G20210A, rs1205 (CRP gene), rs1800779 (NOS3 gene) and rs2257073 (ASB10 gene) genetic variants were analyzed by Real-Time PCR, comparing the last three with a reference population. Alteration frequencies of the variables were determined by chi-square statistical analysis. Results: Three out of four of the young patients studied presented indicators of thrombophilia. The rest of the altered parameters were Homocysteine 30.1% (22.4-39.1), Lipoprotein (a) 32.1% (24.1-41.4), Plasminogen activator inhibitor-1 36.0% (27.8-45.1), Fibrinogen 12.3% (7.5-19.6) and C-reactive protein 78.1% (69.6-84.7). Associations were found (p<0.05) between certain vascular risk factors and parameters evaluated, namely hypertension/C-reactive protein, dyslipidemia/lipoprotein (a), arrhythmia/lipoprotein (a) and arrhythmia/fibrinogen. For ischemic stroke patients only the genetic variant rs1205 showed higher frequency of the T allele. Conclusions: This study reveals the importance of analyzing thrombophilia in young patients, especially those without vascular risk factors, as well as the role of hypofibrinolysis, inflammation and some genetic variants in the development of ischemic stroke.

Introdução: O AVC é a segunda causa de morte em adultos no mundo ocidental e uma das principais causas de incapacidade permanente, aumentando de frequência com a idade; 85% são isquémicos. Metas: Analisar os parâmetros trombofílicos, hipofibrinolíticos e genéticos em pacientes com acidente vascular cerebral isquêmico e avaliar a possível associação com fatores de risco cardiovascular. Metodologia: Um questionário foi utilizado para avaliar a presença de fatores de risco cardiovascular em 114 pacientes incluídos no estudo com diagnóstico de acidente vascular cerebral isquêmico. Proteína C e antitrombina foram determinadas por métodos cromogênicos, resistência à proteína C ativada e inibidor de lúpus por métodos coagulométricos e proteína S livre, inibidor do ativador do plasminogênio-1, homocisteína e lipoproteína (a) por métodos imunoquímicos. O fibrinogênio foi determinado por coagulometria e a proteína C-reativa por imunoturbidimetria, ambos contra um grupo controle. As variantes genéticas fator V Leiden, protrombina G20210A, rs1205 (gene PCR), rs1800779 (gene NOS3) e rs2257073 (gene ASB10) foram analisadas por PCR em tempo real, comparando as três últimas com uma população de referência. As frequências de alteração das variáveis ​​foram determinadas pela análise estatística qui-quadrado. Resultados: Três dos quatro pacientes jovens estudados apresentaram indicadores de trombofilia. O resto dos parâmetros alterados foram homocisteína 30,1% (22,4-39,1), lipoproteína (a) 32,1% (24,1-41,4), inibidor do ativador de plasminogênio-1 36,0% (27,8-45,1), fibrinogênio 12,3% (7,5-19,6) e proteína C reativa 78,1% (69,6-84,7). Foi encontrada associação (p<0,05) entre alguns fatores de risco cardiovascular e os parâmetros avaliados como hipertensão/proteína C reativa, dislipidemia/lipoproteína (a), arritmia/lipoproteína (a) e arritmia/fibrinogênio. Para pacientes com acidente vascular cerebral isquêmico apenas a variante rs1205 apresentou maior frequência do alelo T. Conclusões: Este estudo revela a importância de analisar a trombofilia em pacientes jovens, especialmente aqueles sem fatores de risco cardiovascular, bem como o papel da hipofibrinólise, inflamação e algumas variantes genéticas no desenvolvimento do acidente vascular cerebral isquêmico.

As trombofilias na perda gestacional de repetição: uma revisão de prevalência e condutas / Thrombophilias in recurrent pregnancy loss: a review of prevalence and conduct

Objetivo: Discutir o papel das trombofilias na perda gestacional de repetição, com foco em prevalência/associação dessas patologias com perdas de repetição e seu tratamento, por meio de resultados de ensaios clínicos, revisões sistemáticas e metanálises. Métodos: Trata-se de uma revisão não sistemática de artigos publi- cados nas bases eletrônicas PubMed, Cochrane e SciELO nos últimos cinco anos, utilizando os seguintes descritores: "recurrent pregnancy loss", "recurrent abortion", "habitual abortion", "thrombophilia", "antiphospholipid syndrome" e "treatment". Resultados: A maioria dos estudos relatou forte associação entre os anticorpos antifosfolípides específicos e a síndrome do anticorpo antifosfolípide com perda gestacional de repetição. Mulheres portadoras da mutação do fator V de Leiden, mutação do gene da protrombina e deficiência de proteína S apresentaram alto risco de perda gestacional de repetição em uma grande revisão sistemática. Estudos recentes demonstraram taxas de prevalência das trombofilias hereditárias e da síndrome do anticorpo antifosfolípide, em mulheres com perda gestacional de repetição, semelhantes às da população em geral. Os estudos atuais endossam o uso da heparina associada à aspirina em mulheres com síndrome do anticorpo antifosfolípide, com aumento da taxa de nascidos vivos, mas sem diferença em re- lação às complicações obstétricas. Conclusão: Apesar de novos estudos demons- trarem que a prevalência das trombofilias hereditárias e adquiridas em mulheres com perda gestacional de repetição é semelhante à da população em geral, reco- menda-se a pesquisa rotineira de síndrome do anticorpo antifosfolípide nessas pacientes. O uso de aspirina em baixas doses associada à heparina é a intervenção farmacológica de primeira linha para a prevenção de perda gestacional de repeti- ção em pacientes com síndrome do anticorpo antifosfolípide.

Objective: To discuss the role of thrombophilias in recurrent pregnancy loss, focu- sing on the prevalence/association of these pathologies with recurrent abortion and treatment, through results of clinical trials, systematic reviews and meta-analyses. Methods: This is a non-systematic review of articles published in electronic databa- ses PubMed, Cochrane, SciELO in the last five years, using the following descriptors: "recurrent pregnancy loss", "recurrent abortion", "habitual abortion", "thrombophilia", "antiphospholipid syndrome", and "treatment". Results: Most studies have reported a strong association between specific antiphospholipid antibodies and antiphospho- lipid antibody syndrome with recurrent pregnancy loss. Women carrying the factor V Leiden mutation, prothrombin gene mutation, and protein S deficiency were shown to be at high risk of recurrent pregnancy loss in a large systematic review. Recent studies have shown prevalence rates of hereditary thrombophilias and antiphospholipid antibody syndrome, in women with re- current pregnancy loss, similar to those of the general po- pulation. Current studies endorse the use of heparin plus aspirin in women with antiphospholipid antibody syndrome, with an increase in live birth rate, but with no difference in obstetric complications. Conclusion: Although new studies demonstrate that the prevalence of hereditary and acquired thrombophilias in women with recurrent pregnancy loss is si- milar to that of the general population, routine investigation of antiphospholipid antibody syndrome in these patients is recommended. The use of low-dose aspirin plus heparin is the first-line pharmacological intervention for the prevention of recurrent pregnancy loss in patients with antiphospholipid antibody syndrome.

ACV isquémico en población joven: ¿existe un enfoque diferencial del riesgo? / Ischemic stroke in a young population: is there a differential approach to risk factors?

Introducción: El ataque cerebrovascular isquémico en el adulto joven se define como aquel que ocurre en la población entre los 18 y los 55 años, y representa el 15-18 % de todos los ACV isquémicos. Los factores de riesgo en jóvenes son comunes a los encontrados en adultos mayores. El objetivo de este trabajo es describir las características clínicas y los factores de riesgo de una población menor de 55 años con ACV isquémico atendida en un centro de referencia hospitalario en Colombia. Materiales y métodos: Estudio descriptivo, retrospectivo de corte transversal en pacientes entre los 18 y los 55 años; se incluyeron 100 pacientes sobrevivientes a un primer ACV isquémico agudo confirmado por neuroimagen, atendidos entre enero de del 2019 y noviembre del 2021. Resultados: De 1023 pacientes con diagnóstico de ACV isquémico agudo, el 9,8 % fueron adultos jóvenes. La media de edad fue de 45 ± 8,7 años, y el 59 % de estos pacientes fueron hombres. Discusión: Los factores de riesgo "tradicionales" se presentan en la mayoría de los jóvenes con ACV isquémico. La hipertensión arterial se mantiene como el antecedente más frecuente. Las mujeres presentan eventos de mayor severidad y peor desenlace funcional. Conclusión: Los pacientes mayores de 45 años tienen un perfil de factores de riesgo similar a lo observado en adultos mayores con ACV, mientras que en los menores de 45 años se encuentra un perfil de factores de riesgo diferente que plantea un diagnóstico etiológico particular de esta población.

Introduction: Ischemic stroke in young adults is defined as occurring in individuals between the ages of 18 and 55, representing 15-18 % of all ischemic strokes. Risk factors in young adults are similar to those found in older adults. The objective of this study is to describe the clinical characteristics and risk factors of a population under 55 years of age with ischemic stroke treated at a hospital reference center in Colombia. Materials and methods: Descriptive, retrospective cross-sectional study in patients between 18 and 55 years old. A total of 100 patients between 18 and 55 years old who survived a first confirmed acute ischemic stroke, as confirmed by neuroimaging, were included. The study period was from January 2019 to November 2021. Results: Out of 1023 patients diagnosed with acute ischemic stroke, 9.8 % occurred in young adults. The mean age was 45 ± 8.7 years, of which 59 % were male. Discussion: "Traditional" risk factors are present in the majority of young adults with ischemic stroke. Hypertension remains the most common antecedent. Women experience more severe events and worse functional outcomes. Conclusion: Patients over 45 years old have a risk factor profile similar to what is observed in older adults with stroke, while in those under 45, a different risk factor profile is found, which poses a particular etio-logical diagnosis for this population.

Trombosis venosa mesentérica / Mesenteric venous thrombosis

La trombosis venosa mesentérica (TVM) es una entidad poco frecuente que puede presentarse de manera aguda, subaguda o crónica. Puede ocurrir de forma aislada o en el seno de una trombosis esplácnica (espleno-porto-mesentérica). Los casos sintomáticos suelen presentarse como dolor abdominal inespecífico, con o sin datos de sufrimiento intestinal, y el diagnóstico se realiza habitualmente mediante una prueba de imagen (TC abdominal o RMN) en pacientes con una alta sospecha clínica. Se recomienda un enfoque clínico-quirúrgico precoz para cribar aquellos pacientes con datos de alarma y que se beneficien de una laparotomía exploradora añadida al tratamiento anticoagulante, que es la piedra angular del tratamiento médico. La TVM suele asociar estados protrombóticos, siendo de especial interés clínico los trastornos hematológicos (síndromes mieloproliferativos y mutaciones del gen JAK2). Por otro lado, la tasa de supervivencia a los 5 años es del 70-82%, y la mortalidad global precoz puede llegar hasta el 20-32% (AU)

Mesenteric vein thrombosis (MVT) is a rare condition that can present acutely, subacutely, or chronically. MVT can be isolated or within a splanchnic thrombosis (spleno-porto-mesenteric). Symptomatic cases usually present as nonspecific abdominal pain, with or without signs of intestinal ischemia, and the diagnosis is usually made by imaging test (abdominal CT or MRI) in patients with high clinical suspicion. An early clinical-surgical approach is recommended to screen those patients with warning signs and who benefit from an exploratory laparotomy in addition to anticoagulant treatment, which is the cornerstone of medical treatment. MVT is usually associated with prothrombotic states, with hematological disorders (myeloproliferative syndromes and/or JAK2 gene mutations) being of special clinical relevance. On the other hand, the 5-year survival rate is 70-82% and early overall 30-day mortality from MVT can reach 20-32% (AU)

Complicaciones hemorrágicas y trombóticas del embarazo: diagnóstico, prevención y tratamiento

Las hemorragias y la enfermedad tromboembólica venosa (ETEV) figuran entre las cinco causas más frecuentes de morbilidad y mortalidad materna en el mundo. Revisamos la evaluación y el manejo actualizado de las causas obstétricas de la hemorragia posparto (HPP), así como el diagnóstico y manejo de condiciones hematológicas que pueden causar o agravar la HPP, por ejemplo: coagulación intravascular diseminada, enfermedad de von Willebrand, trombocitopenia autoinmune y las microangiopatías trombóticas. Revisamos el rol del síndrome antifosfolípido y las trombofilias hereditarias como factores predisponentes a pérdidas fetales recurrentes y la ETEV en el embarazo y las recomendaciones actuales para la prevención de ambas complicaciones. Asimismo, repasamos el abordaje diagnóstico y líneas de manejo de la ETEV. Un objetivo adicional fue enfatizar la importancia del trabajo colaborativo multidisciplinario para lograr el manejo exitoso de las gestantes con las complicaciones obstétricas y hematológicas descritas.

Bleeding and venous thromboembolism (VTE) are among the five most common causes of morbidity and mortality in pregnant women worldwide. This review describes the current evaluation and management of the obstetric causes of postpartum hemorrhage (PPH), as well as the diagnosis and management of hematologic conditions which can cause or worsen PPH, such as disseminated intravascular coagulation, von Willebrand disease, autoimmune thrombocytopenia and the thrombotic microangiopathies. It also describes the role of the antiphospholipid syndrome and inherited thrombophilia as predisposing factors for recurrent pregnancy loses and VTE, and the current recommendations for the prevention of both complications. As well, the current diagnostic approach and management of ETEV are described. An additional objective of this Review is to emphasize the importance of a collaborative multidisciplinary approach for the successful management of the obstetric and hematologic complications herein described.

[Mesenteric venous thrombosis]. / Trombosis venosa mesentérica.

Mesenteric vein thrombosis (MVT) is a rare condition that can present acutely, subacutely, or chronically. MVT can be isolated or within a splanchnic thrombosis (spleno-porto-mesenteric). Symptomatic cases usually present as nonspecific abdominal pain, with or without signs of intestinal ischemia, and the diagnosis is usually made by imaging test (abdominal CT or MRI) in patients with high clinical suspicion. An early clinical-surgical approach is recommended to screen those patients with warning signs and who benefit from an exploratory laparotomy in addition to anticoagulant treatment, which is the cornerstone of medical treatment. MVT is usually associated with prothrombotic states, with hematological disorders (myeloproliferative syndromes and/or JAK2 gene mutations) being of special clinical relevance. On the other hand, the 5-year survival rate is 70-82% and early overall 30-day mortality from MVT can reach 20-32%.

Trombosis venosa de retina. Auditoría de un programa de atención especializada / Retinal vein occlusion. Audit of a specialized care program

Background and objectives Retinal vein occlusion (RVO) is the second most frequent cause of retinal vascular disease and is related to classic cardiovascular risk factors. A specific program was designed to detect and treat risk factors in patients with RVO. The aim of this study is to audit the results of this program. Patients and methods The program consisted of a multidisciplinary clinical evaluation by the Ophthalmology and Internal Medicine Departments. All patients with RVO were screened, at minimum, for hypertension, diabetes, dyslipidemia, smoking, overweight, and antiphospholipid syndrome. New risk factors or poor control of known risk factors were expected to be found in at least one-third of the patients. Among them, therapeutic measures were expected to be taken in at least two-thirds. A dissociated automated search of the data of all patients who entered the program between April 2021 and April 2022 was performed. Results Fifty-six patients were included for analysis. Of these, 39 (69.6%) had at least one new or poorly controlled risk factor and 43 (76.8%) had their treatment modified in some way. Antiphospholipid syndrome was detected in five (8.9%). Only one patient had low-risk hereditary thrombophilia. After an exhaustive examination, no risk factors were found in 11 patients. Conclusion This specific program has been effective in detecting new or poorly controlled risk factors and improving their treatment (AU)

Antecedentes y objetivo La trombosis venosa de retina (TVR) es la segunda causa más frecuente de enfermedad vascular de la retina y se relaciona con factores de riesgo cardiovascular clásicos. Se diseñó un programa específico para detección y tratamiento de factores de riesgo en pacientes con TVR. El objetivo de este estudio es auditar los resultados de dicho programa. Pacientes y métodos El programa consistió en una evaluación clínica multidisciplinar por parte de Oftalmología y Medicina Interna. A todos los pacientes con TVR se les realizó cribado, al menos, de hipertensión arterial, diabetes, dislipidemia, tabaquismo, sobrepeso y síndrome antifosfolípido. Se esperó encontrar nuevos factores de riesgo o pobre control de los ya conocidos en, al menos, un tercio de los pacientes. Entre ellos, se esperó tomar alguna medida terapéutica en, al menos, dos tercios. Se llevó a cabo una búsqueda automatizada disociada de los datos de todos los pacientes que entraron en el programa entre abril de 2021 y abril de 2022. Resultados Cincuenta y seis pacientes se incluyeron para el análisis. De ellos, 39 (69,6%) tenían al menos un factor de riesgo nuevo o mal controlado, y 43 (76,8%) vieron modificado en algún modo su tratamiento. Se detectó síndrome antifosfolípido en 5 (8,9%). Solo un paciente tenía una trombofilia hereditaria de bajo riesgo. Tras un examen exhaustivo no se encontró factor de riesgo alguno en 11 pacientes. Conclusión Este programa específico ha sido efectivo para detectar factores de riesgo nuevos o mal controlados y mejorar su tratamiento (AU)

Retinal vein occlusion. Audit of a specialized care program.

BACKGROUND AND OBJECTIVES: Retinal vein occlusion (RVO) is the second most frequent cause of retinal vascular disease and is related to classic cardiovascular risk factors. A specific program was designed to detect and treat risk factors in patients with RVO. The aim of this study is to audit the results of this program. PATIENTS AND METHODS: The program consisted of a multidisciplinary clinical evaluation by the Ophthalmology and Internal Medicine Departments. All patients with RVO were screened, at minimum, for hypertension, diabetes, dyslipidemia, smoking, overweight, and antiphospholipid syndrome. New risk factors or poor control of known risk factors were expected to be found in at least one-third of the patients. Among them, therapeutic measures were expected to be taken in at least two-thirds. A dissociated automated search of the data of all patients who entered the program between April 2021 and April 2022 was performed. RESULTS: Fifty-six patients were included for analysis. Of these, 39 (69.6%) had at least one new or poorly controlled risk factor and 43 (76.8%) had their treatment modified in some way. Antiphospholipid syndrome was detected in five (8.9%). Only one patient had low-risk hereditary thrombophilia. After an exhaustive examination, no risk factors were found in 11 patients. CONCLUSION: This specific program has been effective in detecting new or poorly controlled risk factors and improving their treatment.

Actualización sobre trombofilias y gestación / Update on thrombophilia and pregnancy

El embarazo constituye un factor de riesgo independiente de eventos tromboembólicos, provocado por los cambios en la hemostasia que se producen durante la gestación. Las trombofilias son trastornos de la hemostasia que predisponen a eventos trombóticos. La creciente evidencia sugiere que las trombofilias se asocian a enfermedad tromboembólica y resultados obstétricos desfavorables. Sin embargo, las limitaciones metodológicas han dificultado la obtención de una visión general clara de los riesgos que suponen durante la gestación. El objetivo del presente artículo es realizar una revisión bibliográfica exhaustiva sobre el uso de tromboprofilaxis durante la gestación, con especial interés en esclarecer qué trombofilias tienen indicación de anticoagulación durante el embarazo basada en una mejora de los resultados obstétricos demostrados en la literatura científica.(AU)

Pregnancy is an independent risk factor for thromboembolic events, caused by changes in haemostasis that occur during pregnancy. Thrombophilia comprises disorders of haemostasis that predispose to thrombotic events. Increasing evidence suggests that thrombophilia is associated with thromboembolic disease and poor obstetric outcomes. However, methodological limitations have made it difficult to obtain a clear overview of the risk they pose during pregnancy. The objective of this article is to carry out an exhaustive bibliographic review on the use of thromboprophylaxis during pregnancy, with special interest in clarifying the thrombophilia for which anticoagulation is indicated during pregnancy based on an improvement in obstetric results demonstrated in the scientific literature.(AU)

Oclusión venosa retiniana en pacientes menores de 50 años. Análisis de factores de riesgo vascular, trombofilia, hallazgos ecográficos carotídeos y etiologías poco frecuentes / Retinal vein occlusion in patients under 50 years. Analysis of vascular risk factors, thrombophilia, carotid ultrasound findings and uncommon aetiologies

Introducción La oclusión venosa retiniana (OVR) se ha relacionado con factores de riesgo vascular y trombofilia. Métodos Se trata de un estudio de cohorte prospectivo de todos los pacientes diagnosticados de OVR y remitidos a una clínica de medicina interna de un hospital universitario terciario durante un período de 10 años. Se analizaron variables clínicas, de laboratorio y ecográficas de troncos supraaórticos y se compararon según la edad. Resultados Se incluyeron unos 309 pacientes diagnosticados de OVR, 25 de ellos menores de 50 años. La prevalencia de hipertensión arterial, dislipidemia, diabetes mellitus, hiperhomocisteinemia y placa carotídea fue significativamente mayor en pacientes > 50 años que en los menores. Sin embargo, la prevalencia de trombofilia hereditaria fue mayor en el grupo más joven (32 vs. 11,4%; p = 0,005). Se observaron enfermedades poco frecuentes relacionadas con la OVR como hepatitis C, talasemia menor, enfermedad de Lyme, vasculitis y perlebitis en pacientes jóvenes sin factores de riesgo vascular. Conclusión Sugerimos realizar un estudio genético de trombofilia en pacientes con OVR menores de 50 años, siendo siempre recomendable un control exhaustivo de los factores de riesgo vascular en todos los pacientes con OVR. Además, sugerimos tener en cuenta las enfermedades poco frecuentes relacionadas con la OVR, especialmente en pacientes jóvenes sin factores de riesgo vascular (AU)

Introduction Retinal vein occlusion (RVO) has been related to vascular risk factors and thrombophilia. Methods This is a prospective cohort study of all patients diagnosed with RVO and referred to an Internal Medicine clinic of a tertiary teaching hospital during a 10-year period. Clinical, laboratory and supra-aortic trunks ultrasound variables were analysed and compared according to age. Results Some 309 patients diagnosed with RVO were included, 25 of them younger than 50 years. The prevalence of high blood pressure, dyslipidaemia, diabetes mellitus, hyperhomocysteinemia, and carotid plaque was significantly higher in patients>50 years than in those below. However, the prevalence of inherited thrombophilia was higher in the younger group (32.0 vs 11.4%; p = 0.005). Uncommon diseases related to RVO such as hepatitis C, thalassemia minor, Lyme disease, vasculitis, and periphlebitis were observed in young patients without vascular risk factors. Conclusion We suggest performing a genetic thrombophilia study in RVO patients younger than 50 years, while an exhaustive control of vascular risk factors is always recommended in all RVO patients. Moreover, we suggest bearing in mind uncommon diseases related to RVO, especially in young patients without vascular risk factors (AU)

Splanchnic vein thrombosis as a manifestation of latent myeloproliferative neoplasm associated with sticky platelet syndrome / Trombosis esplácnica como presentación de neoplasia mieloproliferativa latente asociada con síndrome de plaqueta pegajosa

Abstract Vein thrombosis of unusual sites such as the splanchnic region continues to be not only a diagnostic but also a therapeutic challenge for the clinician due to its manifestation and associated pathologies. Latent JAK2 (Janus kinase 2) positive myeloproliferative neoplasm associated with sticky platelet syndrome is unusual. We present a clinical case of a 38-year-old female patient who presented with sudden onset abdominal pain of a possible vascular origin. Splanchnic thrombosis was diagnosed in latent myeloproliferative neoplasm by identifying the JAK2V617F mutation and sticky platelet syndrome via platelet aggregometry. Off-label anticoagulation with rivaroxaban 20 mg/day was administered. During her outpatient follow-up, she did not suffer any new thrombotic episodes.

Resumen La trombosis venosa de sitios inusuales como la esplácnica continúa siendo un reto no solo diagnóstico sino también terapéutico para el clínico debido a su forma de presentación y las patologías asociadas. La neoplasia mieloproliferativa latente JAK2 (cinasa de Janus 2) positiva asociada con síndrome de plaqueta pegajosa es inusual. Se presenta un caso clínico de una paciente de 38 años de edad que debutó con dolor abdominal de inicio súbito que sugirió un posible origen vascular. Se diagnosticó trombosis esplácnica en relación con neoplasia mieloproliferativa latente por la identificación de la mutación de la JAK2V617F y síndrome de plaqueta pegajosa mediante agregometría plaquetaria. Se administró de manera off-label anticoagulación con rivaroxabán 20 mg/día. Durante su seguimiento ambulatorio no ha presentado nuevos episodios trombóticos.

Paciente joven con accidente cerebrovascular isquémico: ¿Se debe buscar una trombofilia? / Ischemic stroke in a young patient, is it needed to look for a thrombophilia?

Resumen El accidente cerebrovascular isquémico es un evento de gran importancia debido a las implicaciones y el impacto en la calidad de vida de la población afectada. Su incidencia es más alta en adultos mayores y en personas con factores de riesgo cardiovascular. Existe un grupo de pacientes jóvenes (18-44 años) sin factores de riesgo que presentan dicho evento, por lo que, en la práctica clínica, se tiende a evaluar rutinariamente las trombofilias hereditarias y adquiridas como factor etiológico principal para los eventos isquémicos en este grupo etario. No obstante, son pocos los casos donde se documenta algún trastorno de este tipo, ya que es más frecuente la presencia de otras etiologías como el cardioembolismo y trastornos vasculares. La evaluación de las trombofilias es compleja, dado el alto costo, las limitaciones técnicas para hacerlo y el impacto clínico y terapéutico incierto al documentarse estos estados. Se realiza esta revisión de tema con el fin de orientar al clínico acerca de la pertinencia de objetivar estas condiciones en el paciente joven con accidente cerebrovascular isquémico.

Abstract Acute ischemic stroke is a pathology of great complexity due to the implications and impact on the quality of life of the affected population. The incidence of this pathology is higher in older adults and in people with cardiovascular risk factors. There is a group of young patients with no risk factors who present these events. Therefore, in clinical practice, hereditary thrombophilias tend to be frequently evaluated as the main etiological factor for this age group. However, there are few cases where a disorder of this type is documented and the presence of other etiologies such as cardioembolism and vascular disorders are more frequent. Thus, the evaluation of thrombophilia is complex due to its high cost, technical limitations when evaluating, and its uncertain clinical and therapeutic impact when documented. For this reason, this review is carried out in order to guide the clinician about the relevance of objectifying these conditions in young patient with acute ischemic stroke

Retinal vein occlusion in patients under 50 years. Analysis of vascular risk factors, thrombophilia, carotid ultrasound findings and uncommon aetiologies.

INTRODUTION: Retinal vein occlusion (RVO) has been related to vascular risk factors and thrombophilia. METHODS: This is a prospective cohort study of all patients diagnosed with RVO and referred to an Internal Medicine clinic of a tertiary teaching hospital during a 10-year period. Clinical, laboratory and supra-aortic trunks ultrasound variables were analysed and compared according to age. RESULTS: Some 309 patients diagnosed with RVO were included, 25 of them younger than 50 years. The prevalence of high blood pressure, dyslipidaemia, diabetes mellitus, hyperhomocysteinemia, and carotid plaque was significantly higher in patients >50 years than in those below. However, the prevalence of inherited thrombophilia was higher in the younger group (32.0% vs 11.4%; p = 0.005). Uncommon diseases related to RVO such as hepatitis C, thalassemia minor, Lyme disease, vasculitis, and periphlebitis were observed in young patients without vascular risk factors. CONCLUSION: We suggest performing a genetic thrombophilia study in RVO patients younger than 50 years, while an exhaustive control of vascular risk factors is always recommended in all RVO patients. Moreover, we suggest bearing in mind uncommon diseases related to RVO, especially in young patients without vascular risk factors.

Efectos de la pandemia por SARS-CoV-2 en una cohorte de pacientes con obstrucción venosa retiniana / Effects of the COVID-19 pandemic on a cohort of patients with vein occlusion

Antecedentes y objetivos En diciembre de 2019 surgió una nueva enfermedad por coronavirus en humanos causada por el virus SARS-CoV-2, la COVID-19, que se ha asociado con fenómenos trombóticos. La obstrucción venosa retiniana (OVR) es principalmente una consecuencia de los factores de riesgo vascular (FRV). El objetivo de este estudio ha sido analizar los casos de infección por SARS-CoV-2 en una cohorte de pacientes con OVR (cohorte Valdecilla). Pacientes y métodos Entre diciembre de 2008 y 2020 hemos atendido 429 pacientes con OVR. Diez han padecido COVID-19, de los que uno no presentaba FRV ni trombofilia. Los otros 9 fueron diagnosticados de OVR antes de la infección: todos tenían FRV; 6 ateromatosis carotídea y 4 presentaban un síndrome antifosfolípido. La infección no causó en ellos fenómenos trombóticos. Conclusiones La OVR es una manifestación infrecuente de la COVID-19. En nuestra cohorte de pacientes con OVR la COVID-19 no indujo eventos trombóticos (AU)

Background and objectives A new coronavirus disease in humans, COVID-19, caused by SARS-CoV-2, emerged in December 2019. It has been associated with the development of thrombotic phenomena. Retinal vein occlusion (RVO) is mainly a consequence of vascular risk factors (VRF). This study aimed to analyze cases of COVID-19 in a cohort of patients with RVO (Valdecilla cohort). Patients and methods Between December 2008 and December 2020, 429 patients with RVO were attended to in our clinic. Ten patients had COVID-19, one of which did not have VRF or thrombophilia. The remaining nine patients had RVO prior to the infection and VRF, six had carotid atherosclerosis, and four had antiphospholipid syndrome. The infection did not cause thrombotic phenomena in any of them. Conclusions RVO is a rare manifestation of COVID-19. In our cohort of patients with RVO, COVID-19 disease did not lead to thrombotic events (AU)

Management of cerebral venous thrombosis in Spain: MOTIVATE descriptive study. / Manejo de la trombosis venosa cerebral en España: estudio descriptivo MOTIVATE.

INTRODUCTION: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults. Early, accurate diagnosis can reduce the rate and severity of complications. OBJECTIVE: The aim of this study was to analyse the clinical characteristics, management, and treatment of CVT in different centres in Spain. METHODS: We conducted a multicentre, retrospective, descriptive study of patients hospitalised due to CVT between 2008 and 2017 at 11 Spanish centres. RESULTS: We included 256 patients, with a mean age (SD) of 49.8 (18.7) years; 51% of patients were women. The most frequent symptoms were headache (73%), focal deficits (50%), epileptic seizures (33%), and encephalopathy (21%). The most frequent localisations were the superior sagittal sinus (12.5%), the transverse sinus (10.9%), and 2 or more sinuses or veins (66.4%). Thrombophilia was the most frequent known aetiology (24%), and was most commonly associated with the prothrombin G20210A mutation (19%). Forty-six percent of patients were treated with antithrombotics for 3-6 months, 21% for one year, and 22.6% required indefinite anticoagulation. Endovascular therapy was performed in 5% of cases, and 33% required neurosurgery. Regarding outcomes, 75% of patients were independent at 3 months (modified Rankin Scale [mRS] score ≤ 2), with papilloedema (P=.03), focal deficits (P=.001), and encephalopathy (P <.001) showing a statistically significant association with poor prognosis (mRS> 3). The in-hospital mortality rate was 4.3%, with a 3-month mortality rate of 6.3%. CONCLUSION: The diverse risk factors and variable presentation of CVT represent a challenge in the diagnosis and treatment of this condition. To improve prognosis and reduce mortality, it is essential to establish management protocols for this entity.