Venous thromboembolic disease: risk factors and laboratory investigation.
The etiology of venous thromboembolic disease has been the subject of several recent discoveries, particularly on genetic predisposing factors. The laboratory investigation that may help to evaluate the risk for individual patients includes the measurements of coagulation inhibitors (antithrombin, protein C, and protein S) in plasma assays, the search for the factor V Leiden mutation by the plasma activated protein C resistance test (always to be confirmed by DNA analysis when abnormal), and the search for the prothrombin gene mutation by DNA analysis. Among acquired abnormalities, the most frequently involved are phospholipid-dependent autoantibodies associated or not with a subset of antibodies having an anticoagulant effect in vitro (lupus anticoagulant). Other coagulation abnormalities such as increased FVIII, FIX, or FXI levels or hyperhomocysteinemia have been suggested to be risk factors for thrombosis, although additional studies are required to definitively assess their role.
Alhenc-Gelas
M
M
Service d'Hématologie Biologique A, Hôpital Européen Georges Pompidou, Paris, France.
Aiach
M
M
de Moerloose
P
P
D020016:Activated Protein C Resistance / Q000175:diagnosis / Q000235:genetics; D017152:Antibodies, Antiphospholipid / Q000032:analysis; D001779:Blood Coagulation Factors / Q000032:analysis; D005165:Factor V / Q000235:genetics; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D012307:Risk Factors; D020246:Venous Thrombosis / Q000453:epidemiology* / Q000235:genetics
D017152:Antibodies, Antiphospholipid; D001779:Blood Coagulation Factors; C095381:factor V Leiden; D005165:Factor V