Thrombophilia’s control: to whom, when and why

Haema 2014; 5(1):35-40

by Grigoris T. Gerotziafas,1,2 Eleftheria Lefkou2

1Service d’Hématologie Biologique, Hôpital Tenon, Assistance Publique Hôpitaux de Paris, France;
2ER2UPMC, Faculté de Médecine Pierre et Marie Curie, Université Paris VI, France

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Venous thromboembolism (VTE) is a multifactorial and life threatening disease. The presence of some haematological alterations related to hereditary or acquired thrombophilia determines the risk of recurrence of VTE in selected patients. Thus, diagnosis of thrombophilia is mandatory for the therapeutic decision regarding the duration of the anticoagulant treatment. Exploration of hereditary thrombophilia in asymptomatic family members of patients who were diagnosed with hereditary thrombophilia could improve prevention of VTE mainly when they are exposed in situations which increase the risk of thrombosis (i.e. hormone treatment, long airplane travels etc). Among the numerous gene polymorphisms which have been described as potential risk factors for VTE only the mutation G20210A on the gene of prothrombin and the mutation of factor V Leiden (related with the phenotype of activated protein C resistance) are recommended to be explored. The exploration of the deficiency of the natural co- agulation inhibitors (antithrombin, Protein C and protein S) is also part of the recommended laboratory exploration for hereditary thrombophilia in selected patients. The most common acquired haematological alterations related with VTE risk and also with the risk of pregnancy complications (i.e. miscarriages, stillbirth etc) is the presence of the lupus anticoagulant and/or the anticardioloipide antibodies as well as the antibodies against the β2 glycoprotein I. However is should be taken in consideration that the relative risk of VTE is different for each one of the haematological alterations related with thrombophilia. According to the international expert recommendations these the above heamatological alterations should be explored in selected patients. Special attention should be given in the interpretation of the laboratory results when exploration of thrombophilia is performed in patients during the acute phase of VTE, or while they are on anticoagulant treatment or during pregnancy or during hormone treatment.