Deficiency of the naturally occurring anticoagulant proteins, such as antithrombin, protein C and protein S, and activated protein C resistance due to the factor V Leiden gene mutation is associated with inherited thrombophilia.
So far, no direct comparison of the thrombotic risk associated with these genetic defects is available.
In this study, we wish to compare the lifetime probability of developing thrombosis, the type of thrombotic symptoms, and the role of circumstantial triggering factors in 723 first-and second-degree relatives of 150 index patients with different thrombophilic defects.
We found higher risks for thrombosis for subjects with antithrombin (risk ratio 8.1,95% confidence interval [CI], 3.4 to 19.6), protein C (7.3,95% Cl, 2.9 to 18.4) or protein S deficiency (8.5,95% Cl, 3.5 to 20.8), and factor V Leiden (2.2,95% Cl, 1.1 to 4.7) than for individuals with normal coagulation.
The risk of thrombosis for subjects with factor V Leiden was lower than that for those with all three other coagulation defects (0.3,95% Cl, 0.1 to 1.6), even when arterial and superficial vein thromboses were excluded and the analysis was restricted to deep vein thrombosis (0.3,95% Cl, 0.2 to 0.5).
No association between coagulation defects and arterial thrombosis was found. (...)
Mots-clés Pascal : Déficit, Protéine C, Antithrombine, Protein C (activated), Serine endopeptidases, Peptidases, Hydrolases, Enzyme, Facteur V Leiden, Facteur risque, Thrombose, Thromboembolie, Veine, Epidémiologie, Complication, Etude cohorte, Etude familiale, Italie, Europe, Homme, Anticoagulant, Endogène, Hémopathie, Coagulopathie, Maladie héréditaire, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Veine pathologie, Protéine S
Mots-clés Pascal anglais : Deficiency, Protein C, Antithrombin, Protein C (activated), Serine endopeptidases, Peptidases, Hydrolases, Enzyme, Factor V Leiden, Risk factor, Thrombosis, Thromboembolism, Vein, Epidemiology, Complication, Cohort study, Family study, Italy, Europe, Human, Anticoagulant, Endogenous, Hemopathy, Coagulopathy, Genetic disease, Cardiovascular disease, Vascular disease, Venous disease, Protein S
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0478264
Code Inist : 002B19C. Création : 19/02/1999.