Therapeutic consequences of thrombophilic testing

The objectives of this article are to review the data about the consequences of thrombophilia testing and to think about its indications. The indications of congenital thrombophilic testing have extended since the discovery of prevalent abnormalities, such as mutations of factor V or II genes. Howev...

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Bibliographic Details
Published in:La revue de medecine interne 2008-06, Vol.29 (6), p.486-490
Main Authors: Constans, J, Boulon, C, Solanilla, A, Conri, C
Format: Article
Language:fre
Subjects:
Antibodies, Antiphospholipid - blood
Antithrombins - deficiency
Antithrombins - genetics
Factor V Deficiency - genetics
Humans
Immunologic Factors - blood
Mass Screening
Mutation
Prothrombin - genetics
Secondary Prevention
Thrombophilia - complications
Thrombophilia - diagnosis
Thrombophilia - genetics
Thrombophilia - immunology
Thrombophilia - therapy
Venous Thromboembolism - etiology
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Summary:The objectives of this article are to review the data about the consequences of thrombophilia testing and to think about its indications. The indications of congenital thrombophilic testing have extended since the discovery of prevalent abnormalities, such as mutations of factor V or II genes. However, thrombophilia does not result in a significant increase in the risk of recurrence unlike the spontaneous occurrence of thrombotic events. The factor V Leiden mutation is associated with a moderate increase in recurrence rate, while the G20210A mutation of factor II is not associated with a significant increase in recurrence. Regarding the decrease in natural anticoagulants is concerned, there is no definite conclusion, although the decrease in antithrombin is suspected of being associated with an increase in recurrence. Finally, identification of a constitutional thrombophilia most often do not influence the therapeutic decisions unless some rare abnormalities are found, such as a decrease in antithrombin, homozygous mutations in factors V or II genes or associations of thrombophilia. One must remember that antiphospholipid antibodies must be searched because their impact on recurrences is well-known. Diagnostic work-up for thrombophilia is not useful after a distal or a superficial venous thrombosis (except for antiphospholipid antibodies in case of distal venous thrombosis).
ISSN:0248-8663
1768-3122
DOI:10.1016/j.revmed.2008.02.003