Infartos placentarios y trombofilias / Placental infarcts and thrombophilias / Infartos da placenta e trombofilias

Resumen: En la clasificación actual de las lesiones placentarias, se describen más de un tipo de infarto placentario y otras lesiones de mala perfusión placentaria tanto maternas como fetales. Estas distintas lesiones (procesos vasculares, inflamatorios, inmunes, etc) están incorporadas a los criterios diagnósticos del Grupo de Trabajo Placentario de Amsterdam 2014. En las mismas debe considerarse el estudio de trombofilias adquiridas, sin embargo no existe suficiente evidencia para el estudio de las trombofilias hereditarias. Se realiza una revisión sobre las mismas vinculadas a esta patología.

Abstract: In the current classification of placental lesions, more than one type of placental infarction and other maternal and fetal placental malperfusion lesions are described. These different lesions (vascular, inflammatory, immune processes, etc.) are incorporated into the diagnostic criteria of the Amsterdam Placental Working Group 2014. In them, the study of acquired thrombophilias must be considered, however there is not enough evidence to study the hereditary thrombophilias. A review is carried out on them related to this pathology.

Resumo: Na classificação atual de lesões placentárias, são descritos mais de um tipo de infarto placentário e outras lesões de má perfusão placentária materna e fetal. Essas diferentes lesões (vasculares, inflamatórias, processos imunológicos, etc.) são incorporadas aos critérios diagnósticos do Amsterdam Placental Working Group 2014. Nestes, o estudo das trombofilias adquiridas deve ser considerado, porém não há evidências suficientes para estudar as hereditárias trombofilias. É realizada uma revisão sobre eles relacionados a esta patologia.

Policitemia vera y trombofilia / Polycythemia vera and thrombophilia

La policitemia vera es un síndrome mieloproliferativo crónico resultado de la proliferación anormal de la célula madre pluripotente, que da lugar a una hematopoyesis clonal con predominio de hiperplasia eritroide sobre el resto de las líneas hematopoyéticas. Como en otros síndromes mieloproliferativos, se observan complicaciones trombóticas y hemorrágicas, que son causa de morbimortalidad en este grupo de pacientes. La asociación de policitemia vera y estados trombofílicos no es frecuente y cuando aparece aumenta la tendencia a la formación de trombos. Por otro lado, las trombofilias son un grupo heterogéneo de condiciones asociadas a un mayor riesgo de aparición de trombosis arteriales y venosas en las que existen un grupo de factores de riesgo. En este trabajo se presenta un paciente masculino de 50 años con el diagnóstico de policitemia vera de 12 años de evolución, que ha llevado tratamiento con hidroxiurea e interferón alfa recombinante. Durante los dos últimos años comenzó a presentar cuadros de hemorragias recurrentes en ambos miembros inferiores y superiores y además presentó una trombosis venosa profunda por lo que se le realizaron estudios de hemostasia y se detectó una disminución significativa de la actividad de las proteínas C y S, asociación descrita de forma infrecuente, concomitante con alteraciones de la función plaquetaria. Con la presentación de este caso se demuestra la importancia de pesquisar la presencia de estados trombofílicos asociados a procesos hematológicos malignos...

Polycythemia vera is a chronic myeloproliferative syndrome resulting from abnormal proliferation of the pluripotent stem cell, giving rise to a clonal hematopoiesis, with predominant erythroid hyperplasia over other hematopoietic lines. In this as in other myeloproliferative syndromes thrombotic and hemorrhagic complications are observed, which are cause of morbidity and mortality in this group of patients. The association of polycythemia vera and thrombophilic states is infrequent and when it appears tendency of thrombus formation is increased. Furthermore, thrombophilias are a heterogeneous group of conditions associated to an increased risk of arterial and venous thrombosis where a group of risk factors exists. We present a 50 year-old male patient with a diagnosis of polycythemia vera 12 years ago, who has been treated with hydroxyurea and recombinant alpha interferon. During the last two years he started suffering recurrent bleeding episodes in both upper and lower limbs also presenting a deep vein thrombosis. Hemostasis studies were performed and a significant reduction in the activity of proteins C and S were detected, which association is infrequently described, concomitant with alterations of platelet function. This case demonstrates the importance of searching for the presence of thrombophilic states associated to hematological malignancies...

Trombofilias: a prevenção direcionada a uma gravidez bem-sucedida / Thrombophilia: prevention targeted to a successful pregnancy

Vários efeitos adversos na gravidez, como pré-eclampsia, deslocamento de placenta, prematuridade e até mesmo perdas fetais recorrentes vêm sendo amplamente associados a estados trombofílicos. Uma vez que o número de trombofilias herdadas tem crescido rapidamente nos últimos anos com a identificação de vários fatores genéticos predispondo ao desenvolvimento de trombose venosa ou arterial, cada vez mais se torna de grande interesse a identificação de mulheres de risco, na tentativa de minimizar os problemas na gravidez e, principalmente, instituir regimes terapêuticos para a prevenção de perdas fetais. Esta revisão aborda os riscos associados à presença de alterações genéticas predispondo à trombose e a importância de um monitoramento adequado.

Many adverse effects during pregnancy, like preeclampsia, placental abruptions, prematurity and recurrent fetal loss have been widely associated with thrombophilic states. The number of inherited thrombophilias has grown rapidly in recent years with the identification of many predisponent genetic factors to the development of venous and/or arterial thrombosis. Therefore, the identification of women of risk becomes of great interest in the attempt to minimize the problems during pregnancy and mainly to institute therapeutical regimens for fetal loss prevention. This review approaches the risk associated to the presence of genetic alterations predisposing to thrombosis, and the importance of an adequate follow up.

Coagulation inhibitors and activated protein C resistance in recurrent pregnancy losses in Indian women.

Background: Thrombophilias, both acquired and inherited, have been investigated in the etiopathogenesis of unexplained recurrent pregnancy loss. Aim: To study coagulation inhibitors and activated protein C resistance (APCR) in recurrent pregnancy losses (RPL) occurring in second and third trimesters. Materials and Methods: A total of 30 pregnant women (group A) with two or more recurrent unexplained fetal loses were evaluated for APCR, protein C deficiency, protein S deficiency, antithrombin deficiency, and antiphospholipid antibodies (APLA). Thirty age-matched controls were taken (group B) comprising of pregnant women with at least one live issue. Statistical Analysis: Comparisons between two group frequencies and group means were made using Chi square test and Student's t test, respectively. Results: Protein C and protein S levels were reduced in group A compared with group B and the difference was statistically significant (P=0.005 and P=0.032, respectively). The mean value of antithrombin was slightly reduced in group A compared with group B. APCR was observed in 16.6% cases and 3.3% controls. However, the difference was not statistically significant. APLA was observed in 20% cases and none of the controls. Of these, lupus anticoagulant was positive in 16.6% cases and anticardiolipin antibodies in 10% cases. Combined defects were seen in seven patients. Conclusion: There is a significant risk of RPL in pregnant women with thrombophilias. Therefore, screening for thrombophilias may be justified in pregnant women with unexplained recurrent fetal wastage, especially in second and third trimester.