Genetic Testing for Inherited Thrombophilia: 20 Years of Experience in a University and Tertiary Care Centre

Abstract

Inherited thrombophilias are a group of clinical conditions in which there is a genetic variant defect associated with a predisposition to thrombosis. Genetic testing for inherited thrombophilias has been used in the diagnosis of specific thrombophila at our centre for the last 20 years, this work will summarize our experience.

The Etiology of the Thrombotic Phenomena Involved in the Process of Coronary Artery Disease—What Is the Role of Thrombophilic Genes in the Development of This Pathology?

“…However, some factors have shown a stronger association with CAD, including factor VII, PAI-1, prothrombin mutations, von Willebrand factor or fibrinogen. The role of factor V gene polymorphisms in CAD is controversial, with different genetic variants and genotypes showing different results in the groups analyzed, and some studies even failing to identify a significant association [73][74][75]. The anticoagulant activity of FV, which plays a major role in thrombin regulation, is impaired by these mutations, leading to a malfunction of FV protein and thus increased thrombin concentrations, all while the factor V Leiden mutation has been associated with increased resistance to PC.…”

“…Conditions associated with a low prevalence or low thrombosis risk are not included in the screening profile. These include testing for increased activity of factors VII, IX, XI, elevated PAI-1 or PAI-1 polymorphisms or MTHFR mutations; the latter has been identified by one study as present in up to 45% of the general population and is also considered a poor risk factor for thrombosis [69,71,73,74]. Testing for antiphospholipidic syndrome (APS) is also included in most screening profiles for thrombophilia because it is an important acquired risk factor for venous and arterial thrombosis.…”

“…Testing for antiphospholipidic syndrome (APS) is also included in most screening profiles for thrombophilia because it is an important acquired risk factor for venous and arterial thrombosis. According to the definition of APS, at least one of its markers must be identified: lupus anticoagulant, IgG/IgM anticardiolipin antibody or IgG/IgM antiglobulin B2 antibody [62,74].…”