[Constitutional thrombophilias: indications of the biological profile and therapeutic consequences].
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.
Trillot
N
N
Laboratoire d'Hématologie, Hôpital Cardiologique, CHRU, Lille, France.
Rugeri
L
L
Jude
B
B
D020413:3' Untranslated Regions / Q000235:genetics; D020016:Activated Protein C Resistance / Q000453:epidemiology / Q000235:genetics; D000328:Adult; D017668:Age of Onset; D020152:Antithrombin III Deficiency / Q000453:epidemiology / Q000235:genetics; D001779:Blood Coagulation Factors / Q000032:analysis; D005060:Europe / Q000453:epidemiology; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D020138:Hyperhomocysteinemia / Q000453:epidemiology / Q000235:genetics; D015994:Incidence; D016682:Lupus Coagulation Inhibitor / Q000032:analysis / Q000502:physiology; D008297:Male; D008875:Middle Aged; D020151:Protein C Deficiency / Q000453:epidemiology / Q000235:genetics; D018455:Protein S Deficiency / Q000453:epidemiology / Q000235:genetics; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
D020413:3' Untranslated Regions; D001779:Blood Coagulation Factors; D016682:Lupus Coagulation Inhibitor; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin