1. [Constitutional thrombophilias: indications of the biological profile and therapeutic consequences].
- Author
-
Trillot N, Rugeri L, and Jude B
- Subjects
- 3' Untranslated Regions genetics, Activated Protein C Resistance epidemiology, Activated Protein C Resistance genetics, Adult, Age of Onset, Antithrombin III Deficiency epidemiology, Antithrombin III Deficiency genetics, Blood Coagulation Factors analysis, Europe epidemiology, Factor V genetics, Female, Gene Frequency, Genetic Counseling, Genetic Testing, Humans, Hyperhomocysteinemia epidemiology, Hyperhomocysteinemia genetics, Incidence, Lupus Coagulation Inhibitor analysis, Lupus Coagulation Inhibitor physiology, Male, Middle Aged, Protein C Deficiency epidemiology, Protein C Deficiency genetics, Protein S Deficiency epidemiology, Protein S Deficiency genetics, Prothrombin genetics, Thrombophilia blood, Thrombophilia complications, Thrombophilia diagnosis, Thrombophilia drug therapy, Thrombophilia genetics
- Abstract
In laboratory screening in patients with clinical thrombophilia (early thromboembolism episode < 50 years, spontaneous thrombosis, recurrent thrombosis, unusual site of thrombosis, thrombotic family history or coumarin-induced skin necrosis complication), an isolated or combined inherited thrombophilia can be observed: antithrombin (0.5 to 4.9 per cent), protein C (1.4 to 8.6 per cent) and protein S (1.4 to 7.5 per cent) deficiencies or factor V Leiden (20 to 30 per cent). Special attention is mandatory in prescribing biological exploration because of the many physiological or pharmacological interferences which can modify the results. Identification of a genetic defect may induce specific management and individuals should receive counselling regarding the implications of this diagnosis. Further prospective studies should help to determine the thrombotic risk in symptomatic and non-symptomatic patients with inherited thrombophilia and the risk/benefit ratio of laboratory screening for hereditary thrombophilia and therapeutic intervention.
- Published
- 1999