Frequency of thrombophilic gene polymorphisms in cirrhotic patients with splanchnic vein thrombosis in comparison with cirrhotic patients without thrombosis

Background and Objectives: Visceral thrombosis especially hepatic vein thrombosis deteriorates the disease in ciniiotic patients. Thrombophilic genotypes are seen in most cirrhotic patients with portal vein thrombosis. The aim of this study is the comparison of thrombophilic genes frequency in cirrhotic patients with splanchnic veins thrombosis versus cirrhotic patients without thrombosis

Materials and Methods: In a case - control study, we studied 100 patients with hepatic cirrhosis in Tabriz Imam Reza hospital after achieving inclusion criteria in the form of two groups [with and without visceral veins thrombosis]. The frequency of genetic polymorphism of thrombophilia in two groups of cirrhotic patients was assessed

Results: The mean age of the patients was 48.1 +/-18.1 years which were in the range of 15 to 85 years. 51 [51%] of patients were male and 49 [49%] were female. Thrombosis was present in portal vein in 24% of patients, in superior mesenteric vein in 7% of patients, in splenic vein in 14% and in 5% of patients in potal and splenic veins. There was no significant difference between two groups in G20210A, C677T, A1298C and PAH genes polymorphism [P=6.82, P-0.70, P-0.78 respectively]

Conclusion: With regard to the non-significant difference in frequency of thrombophilic gene polymorphism in two groups, we cannot assume prophylactic actions in cirrhotic patients for visceral vein thrombosis but we recommend more multicentric studies with more number of cases for clarifying the topic

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

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

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

Activated Protein C Anticoagulant System Dysfunction and Thrombophilia in Asia

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

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

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

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

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

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

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

Saudi thrombosis and familial thrombophilia registry Design, rational, and preliminary results

To describe the Registry and report preliminary data for the prevalence of 5 prothrombotic gene mutations in the normal Saudi population. Blood from consenting healthy Saudi individuals and patients with venous thrombosis [VT] from different regions of the Kingdom was collected from November 2001 until July 2007. The extracted DNA of each sample was kept at -70°C until tested for 5 known prothrombotic factors using established methods. Only patients with confirmed VT were included. Data generated through direct interview were entered into the Saudi Thrombosis and Familial Thrombophilia [S-TAFT] Register. The consent and demographic data collection forms and the S-TAFT Register were developed using the SQL web based software. Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden [FVL], prothrombin [PT] 20210 G>A, 5-10 methylenetetrahydrofolate reductase [MTHFR] 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 [PAI-1 4G/5G], and factor V HR2 [FVHR2] haplotype. The incidence of FVL among healthy subjects was 1.3%, PT 20210 G>A 0.7%, homozygous MTHFR 677C>T 2.45%, PAI 4G/4G 10.1%, and FVHR2 26.1%. Our preliminary data from healthy Saudi individuals suggest that the incidence of the 5 prothrombotic risk factors is lower than in most other populations, except for FVHR2

Hypercoagulable state in idiopathic ulcerative colitis: role of hyperhomocysteinemia and hyperfibrinogenemia.

BACKGROUND: Previous reports on hypercoagulable factors in inflammatory bowel diseases involve heterogeneous populations and patients on various medications. AIMS: To determine the frequency of thrombotic complications in ulcerative colitis (UC); to evaluate for hyperhomocysteinemia and its relationship to vitamin B12 and folate levels and methylene tetrahydrofolate reductase (MTHFR) mutation; and to evaluate for hyperfibrinogenemia and factor V Leiden mutation. METHODS: Eighty-six adult patients with UC were seen during the study period; 28 of them underwent blood tests and constituted the study population. Patients who received medications that affect these factors were among the 58 excluded. Tests were obtained at baseline and after 2 months during remission. Patients received folic acid in addition to treatment for UC. RESULTS: Vascular thrombotic events were noted in 4 patients during follow up. Hyperhomocysteinemia was detected in 11 (39.3%) patients (controls 15/100, p=0.007). Heterozygous state for MTHFR C677T mutation was found in 5 (17.9%) patients (controls: 0.2% homozygous, 13.6% heterozygous, p>0.05). Plasma homocysteine did not correlate with extent, severity or duration of disease, or with MTHFR C677T heterozygous state, but correlated with serum folic acid level (p=0.003) and BMI (p=0.03). With folate supplementation, homocysteine decreased significantly in patients who had hyperhomocysteinemia at baseline. Hyperfibrinogenemia was detected in 3 patients (none in 100 controls). Plasma fibrinogen was not affected by duration, extent or severity of UC and did not decrease with remission of disease. Only one patient had heterozygous factor V Leiden mutation. CONCLUSION: Vascular thrombosis occurred in less than a fifth of the UC population studied. Hyperhomocysteinemia reversible by folate supplementation and hyperfibrinogenemia were observed, but their contribution and that of factor V Leiden mutation appear to be insignificant.

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

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

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

The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty.

BACKGROUND: Venous thromboembolism (VTE) is a common and potential serious complication in lower extremity surgeries, especially in hip and knee arthroplasty. Pulmonary embolism is one of the most fatal complications. The recognition of VTE in the lower limb has been considered as an indication for anticoagulation. Many studies have shown that thrombophilia is one factor of VTE and the most common causes are protein C, protein S and antithrombin III deficiency, factor V leiden and dysfibrinogenemia. VTE is a disease of Western populations because of well documentation of incidence and many studies about thrombophilia. In Thailand, the prevalence of VTE has been unclear. OBJECTIVE: The present prospective study evaluated the prevalence of thrombophilia and venous thromboembolism after total knee arthroplasty in patients who did not receive prophylactic treatment of VTE in Phramongkutklao Hospital. STUDY DESIGN: Descriptive prospective consecutive case studies. SETTING: The Department of Orthopedic Surgery, Phramongkutklao Hospital, Bangkok Thailand. MATERIAL AND METHOD: Blood sample was examined at 2-3 weeks before TKA for measuring the level of thrombophilia. Bilateral ascending contrast venography of the lower extremities was performed routinely between 6th-10th post operative days after total knee arthroplasty. RESULTS: The authors studied 100 patients, 94 primary TKA and 6 revisions TKA. Sixty-one (61%) were positive for deep vein thrombosis. Eleven patients with positive venograms showed bilateral DVT twelve (12%) had a proximal DVT one was protein C deficiency, nine were protein S deficiency, 18 were antithrombin III deficiency, and 36 were positive study for FDP(D-dimer), However, no one was found with factor V leiden. Odds ratio of protein S deficiency was 0.9506, Antithrombin III deficiency was 0.7376, and FDP(D-dimer) was 1.229. The protein C deficiency and factor V leiden was undetermined. CONCLUSION: Patients who have total knee arthroplasty performed are at high risk for deep venous thrombosis. Although fetal pulmonary embolism rarely occurs in Thai populations, mechanical prevention was routinely used and prophylactic regimen should be a part of management of patients who undergo total knee arthroplasty.

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

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

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

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

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

role of thrombofilia related to Factor V Leiden and Factor II G 20210 A mutations in recurrent abortions

To study, the impact of thrombophilia caused by Factor V, Factor II G20210A mutations on recurrent abortions, the prevelance of Factor V Leiden and Factor II G20210A mutation in patients with habitual abortions. Forty one patients with a diagnosis of habitual abortion were enrolled in the study. Control group consisted of 50 women without a history of poor obstetric outcome. 10 ml. peripheral venous blood was taken from study and control groups and transferred to EDTA tubes, and were tested for Factor V Leiden and Factor II G20210A mutations by PCR in genetics laboratory. Phenotypes of 91 cases were determined by PCR for Factor V Leiden. It was established that of 41 patients in the study group, 31 [75.6%] had GG genotype, 9 [22%] had GA genotype and 1 [2.4%] had AA genotype. In the control group, 45 [90%]of 50 women had GG genotype and 5 [10%] had GA genotype. A allele carrier status was found to be 24.4% in study group and 10% in the control group. The difference between them was not statistically significant [p=0.06]. The results obtained from patients and control group have no difference in Factor V Leiden and Factor II G20210A mutations.These results suggest that mutations have no role in etiology of 1. and 2. trimester recurrent abortions

Trombofilia-estado actual / Trombofilia-current state

Introducción: Los estados de trombofilia son una tendencia especial a producir trombosis venosa, que se presentan habitualmente en personas jóvenes y a menudo son recurrentes. Sus consecuencias más trascendentes son el Tromboembolismo Pulmonar y el Síndrome Post-trombótico. Objetivos: Teniendo en cuenta las patologías de la coagulación que pueden producir estados de trombofilia en pacientes jóvenes, se evaluó la prevalencía de estos procesos en pacientes con síndrome post-trombótico severo. Lugar de aplicación: Departamento de Flebología y Linfología del Hospital Nacional de Clínicas, Córdoba. Materiales y métodos: Durante el periodo marzo de 2001 a marzo de 2002 concurrieron a la consulta flebológica 635 pacientes, de los cuales seis de ellos, 3 hombres y 3 mujeres menores de 45 años, presentaban severos trastornos del retorno venoso compatibles con cuadros postrombóticos. La edad promedio de 39 años (r: 29-45); Estos pacientes fueron estudiados mediante clínica de rutina, ecodoppler color venoso y análisis específicos de laboratorio como la Resistencia a la Proteína C activada, Proteína C, Proteína S, Anticuerpos antifosfolípidos, Antitrombina III, homocisteinemia. Resultados: Se obtuvieron valores anómalos en el perfil biológico del laboratorio en 3 pacientes; la correlación clínica y del laboratorio fue la siguiente: positivo para proteína C y Proteína S; Positivo para Anticuerpos Antifosfolípidos; y positivo para Hiperhomocisteinemia. Conclusiones: Deben preconizarse los estudios de laboratorio necesarios para descartar estados trombofilicos en pacientes menores de 45 años que presenten un primer episodio de trombosis o bien cualquier paciente que haya presentado trombosis recurrentes. Es importante resaltar que la detección temprana de estas patologías y la oportuna derivación al hematólogo, permiten establecer un tratamiento preventivo y así evitar episodios trombóticos con sus respectivas complicaciones.

The prevalence of hereditary thrombophilia in the Trakya region of Turkey

The prevalences of deficiencies in antithrombin III (AT III), protein C (PC), protein S (PS) and in the activated protein C (APC) resistance in the thrombotic population of the Trakya region, Turkey were investigated. 37 patients with venous thrombosis (VT) and 17 patients with arterial thrombosis (ArT) were included in this study. The mean ages of the patients with VT and ArT were 46 years (range 20-70) and 38 years (range 32-40), respectively. The activity of AT III was measured by commercially available immuno-turbidimetric assay. The activities of PC and PS were determined by coagulometric assay. The APC resistance was measured using a modified APTT-based clotting assay. Among the VT patients, there were 2 cases (5.4%) with AT III, 5 (13.51%) with PC deficiency, 5 (13.51%) with PS deficiency and 2 (5.4%) with APC resistance. In the ArT patient group, there was 1 patient (5.88%) with AT III, 3 (17.64%) with PC deficiency, 1 (5.88%) with PS deficiency and no APC resistant patients, while there was one (2.08%) with PC deficiency and one (2.08%) with APC resistance in the control group (49 persons, mean age 41 years). The relative risk of thrombosis (odds ratio) was 1.7 in the deficiency of PC and 5.6 in the deficiency of PS. The data presented suggests that the prevalences of AT III, PC and PS deficiencies causing thrombophilia in the Trakya region of Turkey are higher than in other reported studies while the APC resistance is lower than in others. Further studies including more patients would be required to clarify these discrepancies.