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OBJETIVO: Verificar a frequência e a associação de marcadores séricos para trombofilias hereditárias e adquiridas em gestantes com histórico de pré-eclâmpsia grave em gestação anterior. MÉTODOS: Estudo tipo caso-controle composto por 81 gestantes com histórico de pré-eclâmpsia grave em gestação anterior (grupo de estudo) e 32 gestantes sem antecedente de pré-eclâmpsia grave em gestação anterior (grupo controle). Foi rastreada a presença de anticorpos antifosfolípides e trombofilias hereditárias em ambos os grupos. Foi utilizado o teste χ² com correção de Yates para verificar as associações e calcular os riscos relativos. RESULTADOS: Verificou-se a presença de trombofilias em 60,0% das pacientes com histórico de pré-eclâmpsia e em 6,0% das pacientes do grupo controle. Encontrou-se significante associação entre pré-eclâmpsia grave em gestação anterior e presença de marcadores para trombofilias hereditárias/anticorpos antifosfolípides (pPURPOSE: To determine the frequency and the association of serum markers for inherited and acquired thrombophilias in pregnant women with a history of severe pre-eclampsia in previous pregnancies. METHODS: Case-control study consisting of 81 pregnant women with a history of severe pre-eclampsia in previous pregnancies (study group) and 32 women with no history of severe pre-eclampsia in previous pregnancies (control group). The presence of inherited thrombophilia and antiphospholipid antibodies was screened in both groups. We used the chi-square test with Yates correction to assess associations and calculate the relative risks. RESULTS: The presence of thrombophilia was detected in 60.0% of patients with a previous history of pre-eclampsia and in 6.0% of the control patients. A significant association was found between pre-eclampsia in a previous pregnancy and the presence of markers for hereditary thrombophilia/antiphospholipid antibodies (p

La trombofilia se relaciona con morbimortalidad materno-fetal, fundamentalmente en relación con eventos tromboembólicos venosos (ETEV) y arteriales en el período grávido puerperal, así como también con alteraciones obstétricas como PRE, restricción del crecimiento intrauterino (RCIU) o restricción del crecimiento fetal (RCF), Pre-E severa y precoz, entre otras complicaciones. Por lo tanto, es importante evaluar a aquellas embarazadas que tengan riesgo de enfermedad trombótica o de complicaciones obstétricas según los antecedentes personales o familiares, o ambos, en un intento de prevenir dichas complicaciones. Ante la falta de estudios de buena calidad metodológica y con el objetivo de realizar un trabajo interdisciplinario, es que a partir del curso de EMC de la Cátedra de Hematología sobre "Trombofilia y embarazo", en mayo de 2010, surgió la necesidad de efectuar estas pautas de diagnóstico y tratamiento que contemplen la mayor cantidad de situaciones sobre la base de la mejor evidencia disponible. En primer lugar se revisa la evidencia y luego se exponen las recomendaciones consensuadas por el grupo de trabajo de PARO del Hospital de Clínicas y del Centro Hospitalario Pereira Rossell.

The incidence of cerebrovascular disease in childhood is low and the diagnosis is very difficult. A patient with unsteady gait who involuntarily drops objects from his hands is presented. Imaging studies were performed. They showed the occurrence of ischemic infarction in the superficial territory of the left middle cerebral artery as manifestation of thrombophilia for a disorder of the Factor V Leiden of clotting, which is considered to be heterozygous due to the presence of a mutated allele. The therapy was based on antiplatelet; later, when the etiology of the event was proven, it was replaced by anticoagulation treatment. The patient evolved successfully.

A vasculopatia livedoide é uma afecção cutânea oclusiva dos vasos sanguíneos da derme, de caráter pauci-inflamatório ou não-inflamatório. Caracteriza-se pela presença de lesões maculosas ou papulosas, eritêmato-purpúricas, nas pernas, especialmente nos tornozelos e pés, as quais produzem ulcerações intensamente dolorosas, que originam cicatrizes atróficas esbranquiçadas, denominadas "atrofia branca". Nesta revisão, abordamos os estudos e relatos de caso da literatura médica referentes às associações etiopatogênicas da doença, particularmente as que se referem aos estados de trombofilia, seus achados histopatológicos e abordagens terapêuticas empregadas na difícil condução clínica destes casos.Livedoid vasculopathy is a skin disease that occludes the blood vessels of the dermis. It has a pauciinflammatory or non-inflammatory nature. It is characterized by the presence of macular or papular, erythematous-purpuric lesions affecting the legs, especially the ankles and feet, and producing intensely painful ulcerations, which cause white atrophic scars called "atrophie blanche". This review includes studies and case reports found in the medical literature regarding the etiopathogenic associations of the disease, particularly those related to thrombophilia, their histopathological findings and the therapeutic approaches used in the difficult clinical management of these cases.

Cerca del 10% de las parejas no podrán conseguir un embarazo luego de estar expuesta a doce meses de coito sin protección, y deberán ser sometidas a algún tipo de técnica de reproducción asistida para conseguir un embarazo. En esta revisión sistemática buscamos determinar si hay evidencia que el tratamiento de trombofilia, endógena o exógena, en pacientes sometidas a técnicas de reproducción asistida mejora la tasa de embarazo. Encontramos un total de 29 publicaciones, de las que 6 fueron incluidos en el análisis. Los estudios observacionales muestran una asociación entre trombofilia e infertilidad, sin embargo, no existe evidencia para concluir si existe causalidad o no. No encontramos evidencia concluyente que el tratamiento profiláctico mejore la tasa de embarazo en mujeres infértiles sometidas a fecundación in vitro.Around 10% of couple will not achieve pregnancy after 12 months of exposure, and will undergo assisted reproductive technology. In this systematic review we seek to determine whether the treatment of trombophilia, both exogenous and endogenous, increase or not the clinical pregnancy rate. We found 29 articles, 6 were included in the analysis. We found evidence that there is an association of thrombophilia and infertility, but not that the treatment improve the clinical pregnancy rate in women undergoing in vitro fertilization.

CONTEXTO: A relação entre trombose venosa profunda e trombofilia tem sido pouco estudada em indivíduos portadores de compressão da veia ilíaca comum esquerda, conhecida clinicamente como síndrome de May-Thurner. OBJETIVO: Avaliar a prevalência de marcadores de trombofilia nos pacientes portadores de síndrome de May-Thurner e trombose de veia ilíaca comum esquerda. MÉTODOS: Entre março de 1999 e dezembro de 2008, 20 pacientes com síndrome de May-Thurner e trombose de veia ilíaca comum esquerda foram avaliados retrospectivamente quanto à presença de marcadores de trombofilia. RESULTADOS: Foi detectada a associação entre síndrome de May-Thurner e marcadores de trombofilia em 8 pacientes (40%). CONCLUSÃO: A presença de marcadores de trombofilia em pacientes com trombose de veia ilíaca comum esquerda e síndrome de May-Thurner é frequente, porém não difere da prevalência encontrada em pacientes portadores de trombose venosa profunda sem a síndrome associada.BACKGROUND: The relationship between deep venous thrombosis and thrombophilia has been little studied in patients with left common iliac vein compression, clinically known as May-Thurner syndrome. OBJECTIVE: To evaluate the prevalence of thrombophilia markers in patients with May-Thurner syndrome and left common iliac vein thrombosis. METHODS: From March 1999 to December 2008, 20 patients with May-Thurner syndrome and left common iliac vein thrombosis were retrospectively investigated for the presence of thrombophilia markers. RESULTS: The association between May-Thurner syndrome and thrombophilia markers was found in 8 patients (40%). CONCLUSION: There is a high prevalence of thrombophilia markers in patients with May-Thurner syndrome and left common iliac vein thrombosis. The prevalence, however, is not different from that found in patients with deep venous thrombosis without May-Thurner syndrome.

W ostatnich kilkunastu latach wzrosła zapadalność na zakrzepicę w populacji dziecięcej. Wiąże się to ze zwiększoną przeżywalnością chorych na ciężkie choroby, które stanowią duże czynniki ryzyka wystąpienia zakrzepicy u dzieci, czyli nowotwory, choroby układowe, zakażenia, wady serca, urazy i inne. Nie bez znaczenia pozostają działania lecznicze w tych chorobach, a zwłaszcza szeroko stosowana kaniulacja naczyń centralnych, która jest najczęstszą przyczyną zakrzepicy w młodym wieku. Ponieważ zakrzepica u dzieci niezwykle rzadko ma charakter idiopatyczny, należy dążyć do wykrycia jej przyczyny i wyeliminowania. Uważa się, że tak jak u dorosłych rolę w patogenezie zakrzepicy dziecięcej mogą odgrywać wrodzone nieprawidłowości składu osocza zwiększające ryzyko wystąpienia choroby zakrzepowej, zwane wrodzonymi trombofiliami, które również należy uwzględnić w przebiegu diagnostyki. W wyniku wzrostu zapadalności dzieci na tę chorobę zwiększono ilość badań nad tym problemem, a tym samy poszerzyła się wiedza w tym zakresie. W dotychczasowych badaniach stwierdzono liczne różnice między zakrzepicą dziecięcą i zakrzepicą dorosłych. U dzieci zapadalność na tę chorobę jest zdecydowanie mniejsza w porównaniu z populacją dorosłych. Inna jest też częstość występowania poszczególnych postaci klinicznych choroby. W wieku rozwojowym, a zwłaszcza noworodkowym i niemowlęcym, zmienne są stężenie i aktywność poszczególnych osoczowych czynników krzepnięcia, co ma wpływ na wartości norm badań laboratoryjnych układu krzepnięcia. Również farmakokinetyka leków przeciwzakrzepowych i odpowiedź na leczenie różnią się od obserwowanych w populacji dorosłych. Wymaga to od lekarza dużej uwagi w interpretacji badań oraz odpowiedniej modyfikacji dawek stosowanych leków. Najczęściej stosowanymi lekami są heparyny, leki antykoagulacyjne oraz leki trombolityczne. Wytyczne leczenia zakrzepicy u dzieci nie obejmują całości problemu i właściwe poprowadzenie leczenia opiera się przede wszystkim na doświadczeniu klinicznym lekarza opiekującego się pacjentem.

O diabetes tem adquirido um caráter de epidemia devido ao grande aumento do número de indivíduos acometidos nas últimas décadas. A mortalidade relacionada ao diabetes está associada a eventos trombóticos, principalmente cardiovasculares. De uma maneira geral, pacientes com diabetes apresentam um quadro de hipercoagulabilidade e hipofibrinólise; entretanto, ainda não foram esclarecidos os mecanismos que deflagram as alterações hemostáticas nos indivíduos diabéticos. O objetivo do presente artigo foi abordar as alterações mais frequentes do sistema hemostático descritas na literatura nos indivíduos diabéticos. Os indivíduos diabéticos apresentam alterações endoteliais, plaquetárias, nos fatores de coagulação, nos anticoagulantes naturais e no sistema fibrinolítico, sendo que essas alterações são causadas direta ou indiretamente pela hiperglicemia. Dessa forma, analitos como fator de Von Willebrand, fator VIII, fibrinogênio e D-dímero são marcadores que apresentam interpretações diferenciadas no contexto do paciente diabético. As evidências laboratoriais das alterações hemostáticas nos indivíduos diabéticos suportam a observação clínica de que o diabetes é um estado de hipercoagulabilidade e hipofibrinólise. Ainda não estão bem estabelecidas as estratégias de intervenção clínica e/ou medicamentosa frente aos resultados alterados do sistema hemostático.Diabetes has acquired an epidemic character due to the large increase in the number of individuals affected over recent decades. Diabetes-related mortality is associated with thrombotic events, especially cardiovascular. In general, patients with diabetes present symptoms of hypercoagulability and hypofibrinolysis. However, the mechanisms that trigger hemostatic abnormalities in diabetic patients are not clear. The aim of this paper was to address the most frequent changes of the hemostatic system in diabetic patients described in the literature. Diabetics have abnormalities of the endothelium, platelets, clotting factors, natural anticoagulants and the fibrinolytic system; all these changes are directly and/or indirectly caused by hyperglycemia. Thus, analytes such as von Willebrand factor, factor VIII, fibrinogen and D-dimer are markers that should be interpreted differently in diabetic patients. Laboratory evidence of hemostatic abnormalities in diabetic patients supports clinical observations that diabetes is a state of hypercoagulability and hypofibrinolysis. Strategies for clinical intervention and medications are not well established considering the results of the hemostatic markers.

Defeitos na incorporação de N-glicanos nas proteínas humanas ocasionam um grupo de doenças multissistêmicas denominadas coletivamente distúrbios congênitos de glicosilação (DCG). Os DCG manifestam-se na infância com sintomas neurológicos que incluem principalmente atraso psicomotor, ataxia, hipotonia e episódios de acidente vascular cerebral. Várias proteínas do sistema hemostático somente tornam-se biologicamente ativas após a glicosilação. O objetivo deste estudo foi avaliar os anticoagulantes naturais (proteína S livre, proteína C e antitrombina) e os fatores da coagulação (VIII, IX e XI) em pacientes com DCG tipo I. Foram avaliados 11 pacientes com diagnóstico positivo para DCG tipo I (três do gênero masculino e oito do gênero feminino), idade média de 5,6 anos; e oito pacientes com diagnóstico negativo para DCG(quatro do gênero masculino e quatro do gênero feminino), idade média de 4,5 anos (grupo-controle). O diagnóstico de DCG tipo I foi realizado pela identificação do padrão de hipoglicosilação da transferrina plasmática. Na avaliação dos anticoagulantes naturais pode-se observar redução dos valores de PS livre e PC e uma redução marcante de AT, quando comparados com o grupo controle. Em relação aos fatores de coagulação não houve diferença significativa para os fatores VIII e IX e houve redução marcante do fator XI. Os resultados do presente estudo sugerem que a deficiência combinada de anticoagulantes naturais é responsável pelo estado pró-trombótico observado em pacientes com DCG. Sugerimos também que a análise dos parâmetros hemostáticos seja realizada para pacientes com DCG quando apresentarem sintomas clínicos de alteração do sistema hemostático e antes de procedimentos invasivos.Defects in the biosynthesis of N-linked human protein glycosylation leads to a group of multisystem disorders collectively called congenital disorders of glycosylation (CDG). CDG present in infancy with neurologic symptoms that include psychomotor retardation, ataxia, hypotonia and stroke-like episodes. Many haemostatic system proteins only present biological activity after glycosylation. The aim of this study was to evaluate coagulation inhibitors (free protein S, protein C and antithrombin) and coagulation factors (VIII, IX and XI) in CDG type I patients. Eleven patients with CDG type I (three males and eight females) with a mean age of 5.6 years old, and eight patients without CDG (four males and four females) with a mean age of 4.5 years old (control group) were evaluated. The diagnoses of CDG type I were confirmed by isoelectric focusing of serum transferrin. When coagulation inhibitors were evaluated, decreased activity of free protein S and protein C, and a pronounced reduction of antithrombin were observed compared to the control group. There was no significant difference for coagulation factors VIII and IX but a markedly decrease in factor XI. The present results suggest that a combined deficiency of coagulation inhibitors is responsible for the pro-thrombotic state observed in CDG patients. We recommend that a haemostatic analysis should be performed in CDG patients with clinical haemostatic manifestations before invasive procedures are performed.

INTRODUÇÃO: Complicações tromboembólicas são importantes fatores de risco para perda do enxerto e pior evolução após o transplante renal. Pacientes com defeito trombofílico apresentam maior risco de complicações tromboembólicas. Foram analisados, entre receptores de transplante renal, a prevalência de defeito trombofílico e o risco atribuído a esta condição para a perda do enxerto e para o desenvolvimento de tromboses intravasculares. MÉTODOS: Estudo do tipo coorte incluindo 388 receptores adultos analisados quanto à presença de trombofilia de acordo com a pesquisa de anticorpos anticardiolipina (aCL) por ELISA e das mutações G1691A no gene do fator V (FV) e G20210A no gene da protrombina (PT) por PCR multiplex. RESULTADOS: Defeito trombofílico foi identificado em 25,8% dos pacientes. As taxas de sobrevida de 2 anos do enxerto foram semelhantes entre os pacientes com e sem defeito trombofílico (94% versus 94%, p = 0,53), bem como a sobrevida dos enxertos livres de tromboses intravasculares (97% versus 97%, p = 0,83). Pacientes com defeito trombofílico apresentaram prevalência de tromboses intravasculares semelhante à do grupo-controle (3% versus 3,5%, p = 0,82). O transplante renal anterior foi associado a maior risco de perda de enxerto (OR 20,8, p < 0,001) e de ocorrência de tromboses intravasculares (OR 6,8, p = 0,008). CONCLUSÕES: As prevalências das mutações FV G1691A e PT G20210A na população estudada foram semelhantes às da população geral não transplantada, e a prevalência de anticorpos aCL superou a observada entre os indivíduos sadios. Não houve associação entre os marcadores de trombofilia estudados e a sobrevida em médio prazo do transplante renal.INTRODUCTION: Thromboembolic complications are important risk factors for graft failure and worse renal transplantation outcome. Patients with thrombophilic disorders have a higher risk of thromboembolic complications. The prevalence of thrombophilic disorders and the associated risk for graft failure and for intravascular thrombosis were analyzed in renal transplant recipients. METHODS: This is a cohort study of 388 adult recipients investigated regarding the presence of thrombophilia, through the search for anticardiolipin antibodies (aCL) via ELISA and FV G1691A and PT G20210A gene mutations by multiplex PCR. RESULTS: Thrombophilic disorders were identified in 25.8% of the patients. The 2-year graft survival was similar among patients with and without thrombophilic disorder (94% versus 94%, p = 0.53), and so was the survival free of intravascular thrombosis (97% versus 97%, p = 0.83). The prevalence of intravascular thrombosis was similar in both groups (3% versus 3.5%, p = 0.82). Patients with previous kidney transplantation had a higher risk of graft failure (OR 20.8, p < 0.001) and of intravascular thrombosis (OR 6.8, p = 0.008). CONCLUSIONS: The prevalences of FV G1691A and PT G20210A gene mutations in this cohort of patients were similar to those of the general non-transplanted population. The prevalence of aCL antibodies was higher in this cohort than that observed in healthy individuals. The thrombophilic markers studied did not predict the medium-term survival of renal transplant.

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% 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%) 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% 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%) 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.

A trombose é reconhecidamente uma doença de caráter multifatorial. Sua ocorrência está intimamente relacionada à presença de fatores genéticos e adquiridos que concorrem isoladamente ou em associação para o seu desencadeamento. No entanto, a frequência dos fatores genéticos pode variar de acordo com a origem étnica e com outros aspectos epidemiológicos dos grupos de indivíduos e populações estudadas. No Brasil, dados referentes a indivíduos brasileiros e em especial do estado de Minas Gerais são escassos. O objetivo do presente estudo foi investigar a frequência das mutações fator V Leiden e G20210A no gene protrombina em 1.103 indivíduos com suspeita clínica de trombofilia, empregando a técnica da reação em cadeia da polimerase seguida de restrição enzimática (PCR-RFLP). Os dados foram analisados usando-se o programa Epi Info versão 6.04. A amostra consistiu de 76,16% mulheres e 23,84% homens, com média de idade de 43,06± 14,65. A mutação fator V Leiden foi observada em heterozigose em 7,52% dos indivíduos e em 0,36% em homozigose. A mutação G20210A no gene da protrombina apresentou-se em heterozigose em 5,90% dos indivíduos e em homozigose em 0,18%. O presente trabalho mostra a importância dos testes genéticos conforme o perfil da população analisada, ressaltando informações epidemiológicas da população brasileira e benefícios clínicos.Thrombosis is known to be a multifactorial disease. Its incidence is directly related to the presence of genetic and acquired factors that concur separately or in association to its appearance. However, the frequency of genetic factors can vary according to ethnic background and with other epidemiological aspects of populations. Data from Brazilian individuals and especially those from the State of Minas Gerais are scarce. The present study aims at investigating the frequencies of the factor v Leiden and the G20210G prothrombin gene mutations of 1103 individuals with clinical suspicion of thrombophilia employing the Polymerase Chain Reaction technique followed by enzymatic restriction (PCR-RFLP). The data were analyzed using the Epi Info computer program version 6.04. The sample constituted of 76.16% women and 23.84% men, with an average age of 43.06 ± 14.65 years. The factor V Leiden mutation was observed as heterozygosis in 7.5% of individuals and as homozygosis in 0.36%. The G20210A prothrombin gene mutation appeared as heterozygosis in 5.90% of the individuals and as homozygosis in 0.18%. The present study shows the importance of genetic tests taking into account the profile of the studied population, and stressing the epidemiological information of the Brazilian population and the clinical benefits.

OBJETIVOS: O presente estudo tem como objetivo analisar as características clínicas, laboratoriais e imunológicas dos pacientes com síndrome antifosfolípide (SAF) e comparar indivíduos portadores da síndrome primária com portadores da secundária. PACIENTES E MÉTODOS: Foi analisado o banco de dados de 149 pacientes com SAF do Serviço de Reumatologia do HC-FMUSP que satisfaziam os critérios de classificação para SAF. RESULTADOS: A amostra consistiu de 140 (94%) mulheres e 9 (6%) homens, com média de idade de 39,7 ± 11,6 anos. A SAF primária perfez o total de 50 (33,8%) pacientes. As tromboses arteriais foram mais significativamente freqüentes no grupo de SAF primária em relação à secundária (56% versus 35,7%, p = 0,02), mais especificamente a presença da síndrome de Sneddon (8% versus 0, p = 0,012) e isquemia de extremidades (18% versus 5%, p = 0,017). Com exceção de catarata, que foi mais freqüente no grupo associado ao LES (10% versus 0, p = 0,017), não se observou diferenças significativas em relação às outras comorbidades. Em relação aos auto-anticorpos, o grupo de SAF secundária apresentou significativamente maior prevalência de FAN (99% versus 60%, p < 0,0001), anti-ENA (45,9% versus 22%, p = 0,007) e anti-Ro/SS-A (43% versus 8%, p < 0,0001). Com exceção da anticardiolipina IgG que foi mais freqüentemente observada no grupo de SAF secundária (84,7% versus 60%, p = 0,0018), os outros anticorpos antifosfolípides (anticardiolipina IgM e anticoagulante lúpico) não diferiram entre os grupos. CONCLUSÕES: O presente estudo identificou população de SAF primária que apresenta maior freqüência de fenômenos trombóticos arteriais, mais especificamente a síndrome de Sneddon e isquemia de extremidades, em relação aos pacientes com SAF secundária. Reforçou, também, o papel de auto-anticorpos na identificação de subgrupos de SAF associada ao LES.OBJECTIVES: The aim of this study was to analyze the prevalence and characteristics of the main clinical, immunologic and laboratorial features of antiphospholipid syndrome (APS), and to perform a comparison between primary and secondary forms of APS. PATIENTS AND METHODS: A data base of 149 patients from HCFMUSP who met the preliminary criteria for the classification of APS was analyzed. RESULTS: The pattern consisted of 140 (94%) female and 9 (6%) male patients with a mean age of 39.7 ± 11.6years. Primary APS was present in 50 (33.8%) of the patients. Arterial thrombosis were more found in primary APS compared to secondary APS (56% vs. 35.7%, p = 0.02), more specifically the presence of Sneddon's syndrome (56% vs. 35,7%, p = 0.02) and limbs ischaemia (18% vs. 5%, p = 0.017) were more prevalent in the first group. Except cataract that was more frequently observed in secondary APS group (10% vs. 0, p = 0.017), no other significant difference was found regarding comorbidities. In relation to autoantibodies, the secondary APS patients had a more significant prevalence of ANA (99% vs. 60%, p < 0.0001), anti-ENA (45.9% vs. 22%, p = 0.007) e anti-Ro/SS-A (43% vs. 8%, p < 0.0001). Antiphospholipid antibodies (IgM anticardiolipin and lupus anticoagulant) did not differ between the groups, except IgG anticardiolipin that was more found in secondary APS group (84.7% vs. 60%, p = 0.0018), CONCLUSIONS: the present study showed that primary APS had more arterial thrombotic events, more specifically Sneddon's syndrome and limbs ischemia, than secondary APS. It was also reinforced the role of autoantibodies to identify patients with APS associated to SLE.

O escopo deste artigo é revisar os estados de hipercoagulabilidade sangüínea (trombofilias) mais provavelmente encontrados por dermatologista. Seus sinais cutâneos incluem o livedo reticular, necrose cutânea, ulcerações e isquemia digital, púrpura retiforme, além de úlceras nas pernas. Revisamos seu tratamento adequado, bem como ressaltamos as manifestações cutâneas que impõem pesquisa laboratorial de trombofilias e os exames indicados nessas situações.The aim of this article is to review the hypercoagulable states (thrombophilia) most probably found by dermatologists; their cutaneous signs including livedo racemosa, skin necrosis, digital ischemia and ulcerations, retiform purpura and leg ulcers; their appropriate treatment; to describe the skin manifestations that require laboratory tests for thrombophilias and the tests indicated in these clinical conditions.

A relação entre câncer e alteração na coagulação já havia sido sugerida há quase 150 anos por Trousseau e, subseqüentemente, ficou claro o maior risco que os pacientes oncológicos têm de desenvolverem fenômenos tromboembólicos. Isto pode ser conseqüência da ativação do sistema de coagulação pelas células neoplásicas ou pelas terapias empregadas (quimioterapias e cirurgias). Tais fenômenos podem, ainda, ser a primeira manifestação do câncer e a sua recorrência, mesmo com anticoagulação adequada, foi descrita. O sistema de coagulação é ativado, normalmente, com finalidade reparativa. Na presença de neoplasias, este complexo sistema está atuante frente a variados estímulos e parece contribuir para a progressão tumoral. Este efeito é mais importante para os focos metastáticos que para o próprio tumor primário. Contudo, a maior parte das vítimas de neoplasias morre das complicações das metástases, revelando a importância deste tema. Nesta área, vários mecanismos já são conhecidos e geram interessantes perspectivas para tratamentos futuros. Atualmente, o sucesso obtido com as heparinas de baixo peso molecular no carcinoma de pequenas células de pulmão é animador. Embora o conhecimento sobre esses mecanismos sejam relativamente recentes, os campos de pesquisa e tratamento estão amplamente abertos.The relationship between cancer and coagulopathy was suggested by Trousseau nearly 150 years ago. Later, it became more evident that oncologic patients are at a higher risk of experiencing thromboembolic events. This can be due to activation of the coagulation system either by neoplastic cells or by prescribed therapies (chemotherapy or surgical procedures). In fact, these events can constitute the first manifestation of cancer, and their recurrence, despite efficient anticoagulation, has been described. The coagulation system is normally activated in order to provide healing. In the presence of neoplasms, this complex system is activated as a response to multiple stimuli and seems to contribute to cancer progression. Activation of the coagulation system has a greater effect on metastatic foci than on the primary tumor. However, most cancer victims die from complications caused by metastasis, which underscores the importance of this theme. In this area, various mechanisms have been described, creating promising perspectives for future treatments. The current success in using low-molecular-weight heparins against small cell lung cancer is encouraging. Although the knowledge of those mechanisms is relatively incipient, many basic research and clinical studies are underway.

INTRODUÇÃO: A doença tromboembólica é bastante freqüente, com incidência anual na população de 1 caso por mil indivíduos. Os fatores de risco para trombose incluem condições hereditárias e adquiridas. Uma mutação de ponto no fator II da coagulação, a protrombina G20210A (PTCR), constitui o segundo defeito genético mais comum associado à predisposição para trombose ou trombofilia. No Brasil, o estudo desse fator de risco é relativamente recente e se dispõe de poucos dados na literatura especializada. OBJETIVO: Este trabalho teve como objetivo determinar a freqüência da PTCR em 285 indivíduos sob investigação de trombofilia na Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE/PE). MATERIAL E MÉTODO: A técnica molecular utilizada foi a enzima de restrição/reação em cadeia da polimerase (RE/PCR), com primers específicos e a enzima Hind III. RESULTADOS: A freqüência encontrada da PTCR foi de 6% em heterozigose. A presença da mutação foi semelhante em indivíduos com idades tanto inferiores quanto superiores a 45 anos. DISCUSSÃO: A presença da PTCR pode ter sido determinante para o surgimento dos quadros trombóticos, e a baixa mediana de idade do grupo estudado sugere que outras causas genéticas de trombofilia devem ser investigadas, pois a maioria dos trabalhos associa a presença de fator de risco genético a eventos trombóticos em indivíduos com idade inferior a 45 anos. CONCLUSÕES: Os resultados da pesquisa mostraram que a freqüência da PTCR na população estudada é semelhante à descrita na literatura científica para indivíduos selecionados com tromboembolismo e confirmam a importância do estudo molecular em diferentes faixas etárias.BACKGROUND: Thromboembolic disease is very common, with a yearly incidence in the general population of approximately 1 case per a thousand individuals. The risk factors for thrombosis include both hereditary and acquired conditions. A point mutation in coagulation factor II, prothrombin G20210A (PTCR), constitutes the second most prevalent genetic defect associated with the predisposition to thrombosis or thrombophilia. In Brazil, the study of this risk factor is relatively recent and there is little available data in medical literature. OBJECTIVE: The aim of this study was to determine the frequency of PTCR in 285 individuals being investigated for thrombophilia at Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE/PE). MATERIAL AND METHOD: The molecular biology technique used was restriction enzyme/polymerase chain reaction (RE/PCR), using specific primers and the Hind III enzyme. RESULTS: The frequency of PTCR was 6% in heterozygosis. The presence of the mutation was similar among individuals under and over 45 years old. DISCUSSION: The presence of PTCR may have been a relevant factor for the episodes of thrombosis, and the low median age of the group suggests that other genetic causes of thrombophilia must be investigated inasmuch as most publications associate the presence of genetic risk factor with thrombotic events in individuals under 45 years old. CONCLUSIONS: Our findings showed that the frequency of PTCR in the studied population is similar to the results published in medical literature for selected patients with thromboembolism and they confirm the importance of molecular testing at different age groups.

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%., (Copyright © 2023 Elsevier España, S.L.U. All rights reserved.)

OBJETIVO: verificar a associação entre abortamentos, perdas fetais recorrentes e pré-eclâmpsia grave e a presença de trombofilias hereditárias e anticorpos antifosfolípides em gestantes. MÉTODOS: estudo observacional transversal de 48 gestantes com histórico de abortamentos recorrentes, perdas fetais (Grupo AB), além de pré-eclâmpsia grave (Grupo PE), atendidas no Ambulatório de Gestação de Alto Risco da Faculdade de Medicina (Famed) da Universidade Federal de Mato Grosso do Sul (UFMS) no período de novembro de 2006 a julho de 2007. Rastreou-se a presença de anticorpos antifosfolípides (anticardiolipina IgM e IgG, anticoagulante lúpico e anti-beta2-glicoproteína I) e trombofilias hereditárias (deficiências de proteínas C e S, antitrombina, hiper-homocisteinemia e mutação do fator V Leiden) nas gestantes de ambos os grupos. Os exames foram realizados durante o pré-natal. Os dados paramétricos (idade e paridade) foram analisados por meio do teste tau de Student e os não paramétricos (presença/ausência de trombofilias hereditárias e anticorpos antifosfolípides, presença/ausência de pré-eclâmpsia grave, perdas fetais e abortamentos de repetição) em tabelas 2X2 utilizando o teste exato de Fisher, considerando significativo pPURPOSE: to verify the association of abortion, recurrent fetal loss, miscarriage and severe pre-eclampsia with the presence of hereditary thrombophilias and antiphospholipid antibodies in pregnant women. METHODS: observational and transverse study of 48 pregnant women with past medical record of miscarriage, repeated abortion and fetal loss story (AB Group) and severe pre-eclampsia (PE Group), attended to in the High Risk Pregnancy Ambulatory of the Faculdade de Medicina (Famed) from the Universidade Federal de Mato Grosso do Sul (UFMS) from November 2006 to July 2007. The pregnant women of both groups were screened for the presence of antiphospholipid antibodies (anticardiolipin IgG and IgM, lupic anticoagulant and anti-beta2-glycoprotein I) and hereditary thrombophilias (protein C and S deficiency, antithrombin deficiency, hyperhomocysteinemia and factor V Leiden mutation). The laboratorial screening was performed during the pregnancy. The parametric data (maternal age and parity) were analyzed with Student’s tau test. The non-parametric data (presence/absence of hereditary thrombophilias and antiphospholipid antibodies, presence/absence of pre-eclampsia, fetal loss, miscarriage and repeated abortion) were analyzed with Fisher’s exact test in contingency tables. It was considered significant the association with p value

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%. A prevalência dos fatores trombofílicos hereditários foram: DPC=4%, DPS=6%, DAT=5%, fator V de Leiden=3%, mutação da protrombina=3% e mutação MTHFR=57%. CONCLUSÕES: das 144 pacientes selecionadas, 105 mulheres, ou seja, 72,9% 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%. The prevalence of the hereditary thrombophilic factors were: PCD=4%, PSD=6%, ATD=5%, factor V Leiden=3%, prothrombin mutation=3%, MTHFR mutation=57%. Conclusions: of the 144 patients selected, 105 women (72.9%) presented at least one thrombophilic factor. This reinforces the importance and justifies the need of investigation in this group.

FUNDAMENTOS - Atrofia branca de Milian ou vasculopatia livedóide é entidade clinicopatológica rara, cuja patogênese não é completamente compreendida. OBJETIVOS - Avaliar casos de atrofia branca de Milian para verificar a prevalência de diversas trombofilias. MATERIAL E MÉTODOS - Quatorze pacientes foram submetidos a exames laboratoriais incluindo pesquisa de fator V (Leiden), protrombina mutante, dosagem de antitrombina, proteína S e C, pesquisa de anticorpos anticardiolipina e anticoagulante lúpico, dosagem de homocisteína e pesquisa da mutação da metilenotetraidrofolatoredutase. RESULTADOS - Dos nove doentes cujos critérios de inclusão foram preenchidos para análise da freqüência de trombofilia, foram encontrados quatro com fatores relacionados à trombofilia: deficiência da antitrombina (um caso), deficiência da proteína S (um caso), mutação da metilenotetraidrofolatoredutase com hiperhomocisteinemia (um caso) e presença de anticorpo anticardiolipina (um caso). CONCLUSÃO - Apesar de este estudo não apresentar casuística que possibilite a comparação com a população geral, os dados sugerem a presença de eventos geradores de trombofilia nesses doentes, contribuindo para adoção sistemática de um protocolo de investigação de trombofilia nos doentes portadores de vasculopatia livedóide no Brasil.INTRODUCTION: Atrophie blanche, or livedoid vasculopathy, is a rare clinicopathological entity of unknown etiology. A "thrombo-occlusive process" theory has recently been accepted. OBJECTIVES: To search the presence of several thrombophilic abnormalities in patients with livedoid vasculopathy. METHODS: Fourteen patients were evaluated and tested for factor V Leiden, prothrombin 20210G/A variant, antithrombin, C and S proteins, anticardiolipin and lupus anticoagulant antibodies, homocysteine and methylenetetrahydrofolate reductase mutation. RESULTS: Nine patients met all criteria to be included in the analysis and four of them had a thrombophilic state: antithrombin deficiency (one case), protein S deficiency (one case), methylenetetrahydrofolate reductase mutation with hyperhomocysteinemia (one case) and presence of anticardiolipin antibodies (one case). CONCLUSIONS: Although this tendency cannot be statistically proven, thrombophilic abnormalities seem to be more frequent in patients with atrophie blanche, indicating that screening for thrombophilia of all patients with livedoid vasculopathy might be recommended.

As tromboses são eventos de etiopatogênese multifatorial resultantes da interação de fatores genéticos e ambientais, constituindo na atualidade uma das causas mais comuns de morbimortalidade. Uma mutação de ponto no fator V da coagulação, o fator V Leiden (FVL), constitui o defeito genético mais comum associado com trombofilia. No Brasil, o estudo deste fator de risco é relativamente recente e se dispõe de poucos dados na literatura especializada. Este trabalho teve como objetivo determinar a freqüência da mutação do fator V Leiden em 292 indivíduos sob investigação de trombofilia no Hemocentro de Pernambuco. A técnica molecular utilizada foi a RE/PCR (Enzima de Restrição/Reação em Cadeia da Polimerase), usando primers específicos e a enzima MnlI. A freqüência do FVL encontrada foi de 13,3%, sendo 36 heterozigotos e 3 homozigotos. A presença da mutação foi semelhante em indivíduos com idade tanto inferior quanto superior a 45 anos. Os resultados da pesquisa mostraram que a freqüência do FVL na população estudada é semelhante à descrita na literatura científica para indivíduos selecionados com tromboembolismo e confirmam a importância do estudo molecular nas diferentes faixas etárias.Thrombosis is a multifactorial disease involving genetic and environmental factors and constitutes one of the most common causes of morbimortality. A point mutation in coagulation factor V - factor V Leiden (FVL), constitutes the most prevalent genetic defect associated with thrombophilias. The study of this risk factor is relatively recent in Brazil and only a few reports have been published to date. The aim of this study was to determine the frequency of FVL in 292 individuals being investigated for thrombophilia at the Pernambuco State Blood Center. The molecular biology technique used was RE/PCR (Restriction Enzyme / Polymerase Chain Reaction), using specific primers and the MnlI enzyme. The frequency of FVL was 13.3% including 36 heterozygous and 3 homozygous individuals. The presence of the mutation was similar among individuals under and over 45 years old. Our findings are similar to results published for selected patients who suffered from thromboembolism and they confirm the importance of molecular testing at different ages.

Heparin induced thrombocytopenia (HIT) is a serious complication of heparin anticoagulation and is associated with formation of anti-platelet factor 4. It usually occurs from the fifth day of treatment onwards, with a fall in platelet count of at least 50%. Venous or arterial thrombosis may occur as a result of concomitant platelet activation, with serious clinical repercussions. We present the case of a patient with antiphospholipid antibody syndrome who presented with acute arterial occlusion and was treated surgically and given unfractionated heparin intraoperatively and postoperatively. On the fifth day of anticoagulant treatment he exhibited a platelet count decreased by more than 50% compared to the count prior to heparin administration. The suspicion of heparin-induced thrombocytopenia and its diagnostic and therapeutic features are addressed in this therapeutic challenge paper. [ABSTRACT FROM AUTHOR]

The sticky platelets syndrome is a clinical condition which involves disorders in platelet aggregability characterized by abnormal increase of the same and tendency to the occurrence of vasoocclusive, arterial and venous phenomena. The sticky platelets syndrome was described in 1983, its pathogenesis is unknown, its existence can only be defi ned with platelet aggregation tests and this has been important to rule out that this is an artifact of laboratory. The prevalence of sticky platelets syndrome is not known in detail, but evidence suggests that it is common, some authors have noted that the sticky platelets syndrome is responsible for 20% of unexplained arterial thrombosis and 13% of venous thrombosis that is not possible to identify a cause. The sticky platelets syndrome is a frequent condition in Mexico, reports of clinical evaluation of Mexican patients are scarce, suggesting to perform rigorous prospective studies to document the magnitude of this syndrome. The success of their treatment has been described and genetic studies have been conducted without obtaining clear associations. It is necessary to include the search for sticky platelets syndrome by conventional platelet aggregometry in all patients who meet the clinical features discussed in this text. [ABSTRACT FROM AUTHOR]

Se comentan los aspectos clínicos del tratamiento anticoagulante en la paciente embarazadaThe clinical aspects of the anticoagulant treatment in pregnant patient are commented

OBJETIVO: Comparar a ocorrência de trombofilias em pacientes com osteonecrose idiopática da cabeça femoral em relação aos pacientes com osteonecrose secundária da cabeça femoral. MÉTODOS: Um total de 24 pacientes consecutivos foram avaliados, sendo oito portadores de osteonecrose idiopática e 16 de osteonecrose secundária. Os exames realizados na detecção de trombofilias foram as dosagens de proteína C, proteína S e antitrombina e as pesquisas de mutações nos genes da protrombina e do fator V. Comparamos estatisticamente os resultados através do cálculo da razão de chances ou odds ratio das diferentes trombofilias entre os dois grupos. RESULTADOS: O odds ratio para a deficiência da proteína S e deficiência da proteína C entre os grupos idiopático e secundário foram respectivamente 5 e 2,14. Desta maneira, um indivíduo com osteonecrose idiopática possui uma chance 5 vezes maior de apresentar deficiência da proteína S e 2,14 vezes maior de apresentar deficiência da proteína C do que um indivíduo com osteonecrose secundária. CONCLUSÃO: Pacientes com osteonecrose idiopática têm maiores chances de apresentar trombofilias do que aqueles com osteonecrose secundária, sugerindo que estes distúrbios de coagulação podem desempenhar um papel importante na patogênese dos casos de osteonecrose onde não há inicialmente nenhum fator de risco identificável. Nível de Evidência III, Estudo de Caso-Controle.OBJECTIVE: To compare the occurrence of thrombophilic disorders in patients with idiopathic osteonecrosis of the femoral head and patients with secondary osteonecrosis of the femoral head. METHODS: Twenty-four consecutive patients were enrolled, with eight of them presenting idiopathic osteonecrosis and 16 presenting secondary osteonecrosis. The tests for detection of thrombophilic disorders were measurements of protein C, protein S and antithrombin levels and detection of prothrombin and factor V gene mutations. We compared the results using the odds ratio statistics for the thrombophilic disorders between the two groups. RESULTS: The odds ratio for the protein S deficiency and protein C deficiency between the idiopathic and secondary groups were 5 and 2.14, respectively. Thus, an individual with idiopathic osteonecrosis has 5 times more chance of presenting protein S deficiency and 2.14 times more chance of presenting protein C deficiency than an individual with secondary osteonecrosis. CONCLUSION: Patients with idiopathic osteonecrosis have more chances of presenting thrombophilias than those with secondary osteonecrosis, suggesting these coagulation disorders can play an important role in the pathogenesis of the osteonecrosis in cases where there was no initial risk factor recognized. Level of Evidence III, Case-Control Study.

Se realiza una revisión que comprende la asociación entre trombofilias maternas y tromboembolismo venoso, aborto, preeclampsia, abruptio, restricción del crecimiento intrauterino y mortinatos. Además, se hace énfasis en los factores predisponentes, los métodos diagnósticos, la vigilancia, la profilaxis y el tratamiento de la enfermedad tromboembólica. Se hace hincapié en las heparinas de bajo peso molecular (HBPM) como los medicamentos de elección en la tromboprofilaxis y el tratamiento durante la gestación. Finalmente, se hacen recomendaciones acerca del tratamiento de algunas situaciones especiales en alto riesgo obstétrico: manejo de la mujer embarazada con válvulas cardíacas mecánicas y el manejo de las embarazadas con riesgo incrementado para tromboembolismo venoso y pérdidas gestacionales.This paper reviews the association between maternal thrombophilias and venous thromboembolism, miscarriage, preeclampsia, abruption, intrauterine growth restriction and stillbirths. Emphasis is made on risk factors, diagnostic methods, surveillance, prophylaxis and treatment of thromboembolic disease. Special mention is made to the low molecular weight heparins as the anticoagulants of choice used for thromboprohylaxis and treatment during pregnancy. Finally, recomendations are made for treatment of several special situations in high risk obstetric: management of pregnant women with mechanical heart valves, and management of pregnant patients at increased risk for venous thromboembolism and pregnancy loss.

El propósito del estudio es la detección de trombofilia hereditaria en pacientes con antecedente de trombosis y la evaluación de la profilaxis secundaria con Heparina de bajo peso molecular en el embarazo siguiente, en un diseño observacional prospectivo. Pacientes y Método. En once pacientes con Trombosis reciente se investigó Trombofilias: Antitrombina III, Proteína C, Proteina S, Factor V Leiden (Resistencia a la proteina C activada), Hiperhomocisteinemia (Mutación de la metiltetrahidrofolato reductasa MTHFR del gen C677T), Mutación G20210A de la Protrombina y Sindrome Antifosfolípidos (anticuerpos anticardiolipina y anticoagulante lúpico) mediante determinación plasmática de los factores de coagulación. En el embarazo siguiente fueron tratadas desde el primer trimestre con Dalteparine sódica 2500 - 5000 U sbc/día, en forma continua durante la gestación y en los dos meses de puerperio, con suspensión periparto. Los embarazos fueron vigilados en forma estricta con evaluación clínica, ecográfica y controles de coagulación. Resultados: Se confirmó Trombofilia en todos los casos. Ocho pacientes tuvieron Trombofilia aislada: tres Deficiencia Prot S, dos Def Prot C, dos Factor V de Leiden y un caso de Mutación MTHF Gen C677T. Tres pacientes presentaron Trombofilia combinada: un caso con GenP 20210A + Def Prot S + Mutación MTHF Gen C677T y dos casos con Factor V + Mutación MTHF Gen C677T. En la evolución de la gestación hubo once embarazos de término sin complicaciones obstétricas ni secundarias a la tromboprofilaxis y tres abortos espontáneos. Se concluye que la detección de Trombofilias es muy importante en mujeres en riesgo y que la Dalteparine es segura en la profilaxis de trombosis durante el embarazo. Se discuten los hallazgos clínicos y su significado, el riesgo trombótico y se hacen consideraciones sobre la pesquisa y el tratamientoDetection of inherited thrombophilia in patients with recient thrombosis and evaluation of secondary profilaxis with Low Molecular Weight Heparin in the next gestation, was the proposal of this study in an observational prospective design. Patients and methods: eleven patients with recent thrombosis sent for specialized control were studied for thrombophilia Antithrombin III deficiency, protein S Deficiency, Factor V Leyden, Methylentetrahydrofolate reductase Mutation GenC677T, Hiperhomocysteinemia, Protrombin G20210A Mutation and Antiphospholipid syndrome (anticardiolipin antibodies and lupus anticoagulant) plasmatic determinations of coagulation factors. During the next pregnancy, they were treated with Dalteparine 2500-5000 U each day during gestation and two month after delivery, with strict clinical, ultrasound and hemostatic controls. Results: Thrombophilia was proved in all cases. Eight cases with isolated form: three protein S Deficiency, two protein C Deficiency, two FactorV Leyden and one case of Hypehomocysteinemia. Three patients had a combined form: one with Protrombin G20210A mutation + Def protein C + Mutation Gen C677T and two cases with Factor V Leyden + Mutation Gen C677T. There were eleven healthy and term pregnancy without obstetrical or hemostatic complications and three espontaneous abortion. We discuss clinical events, the trombotic risk and we wake considerations about the detection and meaning of treatment. In conclusion, the detection of thrombophilias is very important in high risk women and Dalteparine is safe in thrombosis prophilaxis during pregnancy

One of the causes of recurrent pregnancy loss is thrombophilia, defined as a tendency to thrombosis or hypercoagulability, with various clinical manifestations dependent on the vascular region affected by the absence of blood flow. Thrombophilias can be classified as inherited or acquired, according to the nature of their cause. The former are factor V Leiden, the prothrombin G20210A, the methilenetetrahydrofolate reductase C677T, deficiencies of the natural anticoagulants antithrombin III, protein C and protein S, dysfibrinogens and homocystinuria. The group of acquired thrombophilias includes antiphospholipid syndrome, activated protein C resistance without alterations in the gene of factor V and mild or moderate hyperhomocysteinemia. This article reviews several recent studies looking for association between different thrombophilias and recurrent pregnancy loss. Also diagnostic, prophylactic and therapeutic recommendations are included, for women with thrombophilia and pregnancy loss Una de las causas de pérdida gestacional recurrente es la trombofilia, que se define como una tendencia a la trombosis o hipercoagulabilidad, con variabilidad en las manifestaciones clínicas dependiente de la región vascular afectada por la ausencia de flujo sanguíneo. Las trombofilias se pueden clasificar como heredadas y adquiridas de acuerdo con la naturaleza de su causa. Entre las trombofilias heredadas están el factor V Leiden, la protrombina G20210A, la metilentetrahidrofolato reductasa C677T, las deficiencias de los anticoagulantes naturales antitrombina III, proteína C y proteína S, las disfibrinogenemias y la homocistinuria. En el grupo de las trombofilias adquiridas se encuentran el síndrome antifosfolípido, la resistencia a la proteína C activada sin alteraciones en el gen del factor V y la hiperhomocisteinemia leve o moderada. Este artículo es una revisión de la literatura de estudios recientes que han buscado la asociación entre las diferentes trombofilias y la pérdida gestacional recurrente. Se incluyen las recomendaciones diagnósticas, profilácticas y terapéuticas para mujeres con trombofilia y pérdida gestacional.

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., (Copyright © 2022 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.)

The anatomical and hormonal changes that occur in a woman's body become susceptible pregnant women at risk of new thrombotic event during pregnancy. Thus, it is important that we know work in terms prophylaxis and knowledge of the use of anticoagulation in special situations and conditions in which thrombosis be present in the absence of proper management. On these occasions the choice of anticoagulant becomes a challenge. The coumarin are drugs that act by inhibiting the synthesis of coagulation factors. Are considered teratogenic when used in the first quarter and demand control by international standardization ratio (INR), however, have the advantage of low cost and oral administration maybe an alternative when used between the 13[th] and the 36[th] week of pregnancy. Heparins act as a cofactor for antithrombin III enhancing their ability to neutralize hemostatic enzymes. Require parenteral administration because they are inactivated in the intestines. When used for extended periods can cause osteopenia and thrombocytopenia. With respect to alternative medications there are not many studies that can ensure the efficacy and safety of its use during pregnancy. They are reserved for cases of contraindication to the use of heparin. The anticoagulation in patients with APS is made in accordance with the manifestations of the disease which can vary from pregnancy losses associated or not with arterial or venous thromboses. With respect to patients with hereditary thrombophilia, anticoagulation will be made based on the type of trombifilia (low or high risk) and the occurrence of previous thrombotic event. The patients with metal heart valve must undergo anticoagulation throughout life and the coumarin is more effective than heparin in the prevention of thromboembolic complications in these patients. [ABSTRACT FROM AUTHOR]

Trobofilias hereditárias têm sido implicadas na patogênese da doenca de Legg-Calvé-Perthes. Uma investigação do fator de risco hereditário mais comum para hipercoagulabilidade - a mutação no gene do fator V (fator V de Leiden) - foi conduzida em 20 pacientes com Legg-Calvé-Perthes e 214 controles sadios. A prevalência do fator V de Leiden foi maior nos pacientes com Legg-Calvé-Perthes que no grupo controle (30 vs. 1,87%). A razão de chances (odds ratio) para o desenvolvimento de Legg-Calvé-Perthes foi de 22,5 (pInherited tendency to hypercoagulability has been suggested as a cause of vascular thrombosis resulting in Legg-Calvé-Perthes disease. An investigation of the most common inherited risk factor for hypercoagulability - the mutation in the V-factor gene (Leiden's V-factor) - was carried out among 20 Patients diagnosed with Legg- Calvé-Perthes disease. Patients were compared with 214 healthy controls. The prevalence of the Leiden's V-factor was higher in patients with Legg-Calvé-Perthes disease than in controls (30% vs. 1,87%). The odds ratio for the development of Legg-Calvé-Perthes disease in the presence of the Leiden's V-factor mutation was 22,5 (p

A microangiopatia livedóide é uma síndrome de hialinização segmentar crônica dos vasos da derme, de causa desconhecida, que afeta principalmente os membros inferiores. Histopatologicamente, tanto as lesões iniciais quanto as tardias são caracterizadas por infiltrado com escassas células inflamatórias, mas com importante angiogênese capilar e microtrombos, aglomerados nodulares de pequenos capilares misturados com hemácias e depósitos de hemossiderina na derme. A ausência de infiltrado perivascular suficiente ou leucocitoclasia argumenta contra vasculite, favorecendo mais um processo trombótico. A microangiopatia livedóide acomete principalmente mulheres jovens e de meia idade. Pode ser idiopática, ou estar associada a alterações na coagulação, incluindo mutação no fator V de Leiden, deficiência da proteína C, aumento na homocisteína plasmática, anormalidades na fibrinólise, ativação plaquetária e síndrome do anticorpo antifosfolípide (SAF). Nós apresentamos um caso de uma paciente com microangiopatia livedóide, associada à presença de SAF com múltiplas úlceras em membros inferiores, que só apresentou melhora clínica após a anticoagulação plena com warfarina e posterior associação com danazol. A microangiopatia livedóide pode representar uma manifestação clínica inicial de um grupo de doenças que causam vasculopatia oclusiva. Logo, todo paciente deve ser investigado para presença de anticorpo antifosfolípide ou de outra causa de trombofilia.Livedoid microangiopathy is a chronic segmental hyalinizing syndrome of dermal blood vessels, of unknown origin, that affects mainly the lower limbs. Histopathologically, both initial as well as late lesion are characterized by few inflammatory cells infiltrate, with prevalent capillary angiogenesis and microthrombi, agglomerate of small capillaries, and dermal deposits of hemosiderin. The absence of a substantial perivascular infiltrate or leukocytoclasia argues against vasculitis, favouring a thrombotic process. Livedoid microangiopathy attacks mainly young and middle-aged women; can be idiopathic, or associated with coagulation alterations including the factor V Leiden mutation, protein C deficiency, increased plasmatic homocysteine, fibrinolysis abnormalities, platelet activation and antiphospholipid antibody syndrome (APS). We describe a case of a patient with livedoid microangiopathy associated with the presence of APS with multiple ulcers in the lower limbs who showed a clinical improvement only after total anticoagulation with warfarin and association with danazol. Livedoid vasculitis can represent an initial clinical manifestation of a group of diseases which cause occlusive vasculopathy; so, every patient should be investigated for the presence of antiphospholipid antibody or of another cause of thrombophilia.

Justificación y Objetivos: Los eventos tromboembólicos en pacientes hospitalizados son contribuyentes de morbi-mortalidad. La minoría de los episodios se presentan durante el internamiento, siendo más frecuentes en los primeros tres meses posteriores al egreso. Se han desarrollado guías internacionales de diagnóstico y tratamiento de los eventos tromboembólicos, sin embargo, los lineamientos respecto a la prevención en los pacientes hospitalizados es escasa. En nuestro país no existen guías para estratificar por riesgo de sangrado y/o trombosis a los pacientes durante su estancia hospitalaria, por lo que se propone una guía de valoración rápida. Métodos: Entre enero y octubre del 2012 se realizó una búsqueda en las bases de datos EBSCO, PUBMED y MDCONSULT. Se seleccionaron y organizaron las referencias según el año de publicación, la escala de evidencia del Centro de Medicina Basada en Evidencia de Oxford del año 2009 y según la relevancia de los resultados, es decir la importancia que tiene el resultado en nuestro objetivo: la prevención de la enfermedad tromboembólica en el paciente hospitalizado. Resultados y Conclusiones: Se propone una guía local con la cual se valore rápidamente el riesgo de trombosis y sangrado individualmente de forma tal que la tromboprofilaxis administrada sea correcta y basada en evidencia. Esta guía es sencilla de implementar y no pretende reemplazar el criterio médico, sino sugerir lineamientos generales.

This article describes the cases of three female patients who were diagnosed with Budd-Chiari syndrome. One patient was subacute and could be successfully managed by placement of a transjugular intrahepatic portosystemic stent (TIPS). Another patient who had the Factor V Leiden mutation developed associated progressive liver dysfunction and required liver transplantation. A hematologic disease was identified as the underlying disorder in two of the three cases. For one patient, the use of oral contraceptives was a risk factor. Since all three patients were undergoing anticoagulant therapy, surgical management was determined according to each patient's clinical condition. Nevertheless, the one patient who that presented acute hepatic failure did not survive. [ABSTRACT FROM AUTHOR]

We present a case of a middle-aged man with recurrent brachiocephalic vein thrombosis concomitant with antiphospholipid syndrome. The reported case concerns unique involvement of the brachiocephalic vein and the difficulties in laboratory diagnostics of the antiphospholipid syndrome. [ABSTRACT FROM AUTHOR]

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Objective: The purpose of this study was to evaluate the long term clinical and ultrasonographic outcomes of thrombophilic patients with deep venous thrombosis (DVT). Method: Cohort study, retrospective case-control with cross-sectional analysis. Thirty-nine thrombophilic patients and 25 non-thrombophilic patients were assessed 76.3 ± 45.8 months after diagnosis. Demographic and family data were collected, as well as data from clinical and therapeutic progress, and physical and ultrasound examinations of the limbs were performed. Groups were matched for age and gender and the variables studied were compared across groups. Results: Deep venous thrombosis was more frequent in women. The most common thrombophilias were antiphospholipid syndrome and factor V Leiden mutation. There was no difference between groups in terms of the number of pregnancies or miscarriages and the majority of women did not become pregnant after DVT. Non-spontaneous DVT prevailed Proximal DVT and DVT of the left lower limb were more frequent, and the main risk factor was use of oral contraceptives. All patients were treated with anticoagulation. There was a higher frequency of pulmonary embolism in non-thrombophilic patients. Most patients considered themselves to have a "normal life" after DVT and reported wearing elastic stockings over at least 2 years. Seventy-one percent of patients had CEAP ⩾ 3, with no difference between groups. Deep venous reflux was more frequent in thrombophilic patients. Conclusion: There were no significant differences between groups with respect to most of the variables studied, except for a higher frequency of pulmonary embolism in non-thrombophilic patients and greater frequency of deep venous reflux in thrombophilic patients. [ABSTRACT FROM AUTHOR]