Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis (original) (raw)
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Journal of Thrombosis and Haemostasis, 2010
To cite this article: Mahmoodi BK, Brouwer J-LP, ten Kate MK, Lijfering WM, Veeger NJGM, Mulder AB, Kluin-Nelemans HC, van der Meer J. A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin.
Eurasian Journal of Medical Investigation, 2019
V enous thromboembolism (VTE) refers to the development of thrombi into the veins and an occlusion in the pulmonary artery and branches caused by embolic fragments from these thrombi. [1-3] Since in general deep vein thrombosis (DVT) occurring with the formation of thrombi in deep veins of lower extremity and its complication pulmonary embolism (PE) are associated, venous thromboembolism (VTE) term is often used for DVT and/or PE. VTE is an Objectives: To evaluate patients diagnosed with venous thromboembolism (VTE) in terms of hereditary thrombophilic risk factors and to assess genetic and biochemical factors affecting the development of VTE. Methods: Sixty patients with VTE and 23 control subjects without VTE were retrospectively evaluated. Prevalence of thrombophilic risk factors and parameters like demographic data, clinical follow-up duration were examined with genetic, biochemical and radiological investigations. Results: Mutations were detected in the genes of Factor V Leiden in 37.4%, Factor II in 13.4%, Methylenetetrahydrofolate reductase C677 in 47.5%, Methylenetetrahydrofolate reductase A1298C in 53.3%, Plasminogen activator inhibitor-1 in 31.6%, Angiotensin converting enzyme in 39.0%, and Factor V H1299R in 8.3% of patients. Protein C deficiency was detected in 25 patients (41.7%), free Protein S deficiency was detected in 25 patients (41.7%) in study group and 3 subjects (13.0%) in control group, and this difference was statistically significant (p=0.023). Antithrombin III deficiency was detected in 1 patient (1.7%) in study group. Elevated homocysteine was higher in study group compared to controls, and the difference was statistically significant (p=0.02). Conclusion: Determination of hereditary risk factors in VTE patients will provide family members who have hereditary risk factors, but did not suffer attack to be protected against thromboembolic attacks by taking simple measures against acquired factors.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1999
Deficiencies of antithrombin (AT), protein C (PC) or protein S (PS), and activated protein C resistance (APCR) are very well-established coagulation defects predisposing to venous thromboembolism (VTE). We performed a retrospective cohort family study to assess the risk for VTE in individuals with AT, PC, or PS deficiency, or APCR. Five hundred thirteen relatives from 9 Italian centers were selected from 233 families in which the proband had had at least 1 episode of VTE. We calculated the incidence of VTE in the whole cohort and in the subgroups after stratification by age, sex, and defect. The overall incidence of VTE (per 100 patient-years) in the group of relatives was 0.52. It was 1.07 for AT, 0.54 for PC, 0.50 for PS, 0.30 for APCR, and 0.67 in the group with a double defect. The incidence was associated with age, but not with sex. The mean age at onset was between 30 and 40 years for all the coagulation defects. Women had the peak of incidence in the age range of 21 to 40 years, earlier than men. The lifetime risk for VTE was 4.4 for AT versus APCR, 2.6 for AT versus PS, 2.2 for AT versus PC, 1.9 for PC versus APCR, and 1.6 for PS versus APCR. AT deficiency seems to have a higher risk for VTE than the other genetic defects. There is a relation between age and occurrence of thrombosis for both men and women. The latter had the peak of incidence earlier than the former.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1999
Deficiencies of antithrombin (AT), protein C (PC) or protein S (PS), and activated protein C resistance (APCR) are very well-established coagulation defects predisposing to venous thromboembolism (VTE). We performed a retrospective cohort family study to assess the risk for VTE in individuals with AT, PC, or PS deficiency, or APCR. Five hundred thirteen relatives from 9 Italian centers were selected from 233 families in which the proband had had at least 1 episode of VTE. We calculated the incidence of VTE in the whole cohort and in the subgroups after stratification by age, sex, and defect. The overall incidence of VTE (per 100 patient-years) in the group of relatives was 0.52. It was 1.07 for AT, 0.54 for PC, 0.50 for PS, 0.30 for APCR, and 0.67 in the group with a double defect. The incidence was associated with age, but not with sex. The mean age at onset was between 30 and 40 years for all the coagulation defects. Women had the peak of incidence in the age range of 21 to 40 years, earlier than men. The lifetime risk for VTE was 4.4 for AT versus APCR, 2.6 for AT versus PS, 2.2 for AT versus PC, 1.9 for PC versus APCR, and 1.6 for PS versus APCR. AT deficiency seems to have a higher risk for VTE than the other genetic defects. There is a relation between age and occurrence of thrombosis for both men and women. The latter had the peak of incidence earlier than the former.
The investigation and management of inherited thrombophilia
Clinical & Laboratory Haematology, 1999
Inherited thrombophilia can be defined as a genetically determined tendency to venous thromboembolism. Genetic risk factors for venous thrombosis include antithrombin deficiency, protein C deficiency, protein S deficiency, activated protein C resistance due to the factor V gene Leiden mutation, inherited hyperhomocysteinaemia, elevated factor VIII levels and the prothrombin gene G20210 A variant. A genetic risk factor is now identifiable in up to 50% of unselected patients with venous thrombosis. Individuals with inherited thrombophilia may develop venous thrombosis at a young age, or they may present with thrombosis at an unusual site or in the apparent absence of any precipitating event. A family history of thrombosis is suggestive of inherited thrombophilia. Laboratory investigations for inherited thrombophilia should include testing for activated protein C resistance and the factor V gene Leiden mutation, and screening for deficiencies of antithrombin, protein C or protein S. Screening for the prothrombin gene G20210 A variant, and measurement of plasma factor VIII and homocysteine levels should be considered in individual cases. In recent years the multifactorial nature of thrombophilia, both circumstantially and on a genetic level, has become increasingly apparent. Individuals with more than one inherited thrombophilia risk factor are particularly prone to thrombosis and their identification is a priority.