Five genetic defects have been established as risk factors for venous thrombosis. Three are protein C, protein S, and antithrombin deficiencies, defects in the anticoagulant pathways of blood coagulation. Together they can be found in approximately 15% of families with inherited thrombophilia. Their laboratory diagnosis is hampered by the large genetic heterogeneity of these defects. The other ...

JD Cavenagh, BT Colvin Summary Although there are numerous risk factors for venous thromboembolic disease, the term 'thrombophilia' refers only to those familial or acquired disorders of the haemostatic system that result in an increased risk of thrombosis. The inherited thrombophilias include antithrombin III deficiency, resistance to activated protein C (factor V Leiden), protein C and protei...

OBJECTIVE Few comprehensive data are available on the recurrence rate of venous thrombosis in carriers of thrombophilic defects from thrombophilic families. We prospectively determined the recurrence rate after a first venous thrombotic event in patients with familial thrombophilia attributable to factor V Leiden or deficiencies of protein C, S, or antithrombin. METHODS AND RESULTS Data were ...

Venous thromboembolism is the leading cause of pregnancy-associated morbidity and mortality. Women with thrombophilia have an increased risk of VTE in pregnancy and puerperium. In individuals with hereditary thrombosis risk factors a relative risk of pregnancy associated VTE ranging from 3.4 to 15.2 has been found. Women with previous VTE have an approximately 3.5-fold increased risk of recurre...

We investigated whether the occurrence of venous thrombosis in young women who use oral contraceptives might be explained by the factor V Leiden mutation, which leads to resistance to activated protein C and enhances susceptibility to thrombosis. We compared 155 consecutive premenopausal women, aged 15 to 49, who had developed deep venous thrombosis in the absence of other underlying diseases, ...

Venous thrombosis is a common disease, with an estimated annual incidence in the general population of 1 in 1000 persons (1). It is a major medical problem, which may cause death due to pulmonary embolism. Fibrinogen is a key component of the common clotting pathway; it is involved in the final phases of coagulation. It is also the coagulation factor whose plasma concentration is the highest (2...

BACKGROUND The factor V Leiden (FVL) mutation has been shown to be the most frequent cause of hereditary thrombophilia. The prevalence of the mutation in patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) has not been fully elucidated. AIMS To investigate the association between the FVL mutation and BCS and PVT. PATIENTS Thirty patients with BCS, 32 patients with PVT,...

prevalence of the thrombosis in the childhood increases in recent years. In adulthood, incidence of thrombosis is 1% and in childhood the incidence is 1/100,000 per year.1 In addition to its increasing prevalence in the childhood, as thrombosis is an important reason in the childhood morbidity and mortality, the studies on thrombosis gradually increase. It is known that the general mutations in...

Resistance to activated protein C (APC) is a common inherited risk factor for venous thrombosis, which is associated with a mutation in coagulation factor V (factor V Leiden). We investigated the risk of venous thrombosis in individuals homozygous for this abnormality. We determined the factor V Leiden genotype in 471 consecutive patients aged less than 70 years with a first objectively confirm...

OBJECTIVE The present study investigates the prevalence of thrombophilia in individuals with first or/and second degree family history of thromboembolism. MATERIAL-METHODS The study group consisted of 68 individuals with a first or second degree family history of venous or arterial thromboembolism, but without a personal history of thrombosis. The activity of ATIII, PC, PS, FVIII, FΧΙΙ and to...