Classic thrombophilic gene variants.

Abstract

Thrombophilia is defined as a condition predisposing to the development of venous thromboembolism (VTE) on the basis of a hypercoagulable state. Over the past decades, great advances in the pathogenesis of VTE have been made and nowadays it is well established that a thrombophilic state may be associated with acquired and/or inherited factors. The rare loss-of-function mutations of the genes encoding natural anticoagulant proteins (i. e. protein C, protein S and antithrombin) and the more common gain-of-function polymorphisms factor V Leiden and prothrombin G20210A are the main genetic determinants of thrombophilia. In addition, non-O blood group has been consistently demonstrated to be the most frequent inherited marker of an increased risk of VTE. The mechanism role of these inherited thrombophilia markers will be discussed in this narrative review.

• Authors: Pier Mannuccio Mannucci, Massimo Franchini
• Journal: Thrombosis and haemostasis (Thromb Haemost) Vol. 114 Issue 5 Pg. 885-9 (Nov 2015) ISSN: 2567-689X [Electronic] Germany
• PMID: 26018405 (Publication Type: Journal Article, Review)

Chemical References

• Antithrombins
• Biomarkers
• factor V Leiden
• Factor V
• Prothrombin

Topics

• Animals
• Antithrombins (metabolism)
• Biomarkers (metabolism)
• Factor V (genetics)
• Genetic Predisposition to Disease
• Humans
• Polymorphism, Genetic
• Prothrombin (genetics)
• Risk Factors
• Thrombophilia (diagnosis, genetics)
• Venous Thromboembolism (diagnosis, genetics)