[Laboratory testing for venous thromboembolism].
Evaluation of inherited thrombophilia in patients with venous thromboembolism includes testing for functional activity of antithrombin, protein C and protein S, and resistance to activated protein C (factor V Leiden), which can be assessed with plasma and DNA-based assays. The antiphospholipid syndrome is an acquired disorder related to the development of antibodies against phospholipid-protein complexes. Testing for the antiphospholipid syndrome includes measurement of antibodies to phospholipid-protein complexes by immunoassay or by detecting interference of anti-phospholipid antibodies in sensitive phospholipid-based assays. Other genetic risk factors have been listed, including a common polymorphism in prothrombin gene (3'-untranslated region) related to an increase of prothrombin level (> 115%) and a common polymorphism in the methylene tetrahydrofolate reductase (enzyme involved in homocysteine metabolism) gene related to a mild increase of homocysteine blood level. More recently high plasmatic levels of factor VIII (> 150%) or factor XI (> 120%), not related so far to a molecular defect, have been identified as risk factors for deep vein thrombosis. As a candidate gene, factor XIII gene polymorphisms are under investigation. Beside the acquired or genetic risk factors involved in thrombophilia, the gene-environment interactions are of importance in the onset of thrombosis.
Tapon-Bretaudière
J
J
Laboratoire d'hématologie, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75908 Paris, France.
D016736:Antiphospholipid Syndrome / Q000097:blood / Q000175:diagnosis; D000991:Antithrombins / Q000032:analysis; D001774:Blood Chemical Analysis; D005165:Factor V / Q000032:analysis; D006801:Humans; D011110:Polymorphism, Genetic; D011486:Protein C / Q000032:analysis; D017293:Protein S / Q000032:analysis; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D013923:Thromboembolism / Q000097:blood* / Q000209:etiology; D019851:Thrombophilia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D020246:Venous Thrombosis / Q000097:blood* / Q000209:etiology
D000991:Antithrombins; D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin
Bilan biologique de la maladie thromboembolique veineuse.