Kostovska, Stojanka and Stegnar, Mojca and Dimova, Cena (2005) “Thrombophillia – Hereditary syndrome” Slovenia-Macedonian intergovernmental scientific and technical cooperation programme for 2004-2005, Project ID: BI-MK/04-05-010. [Project] (Unpublished)
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Abstract
Thrombophilia may be defined as acquired or hereditary tendency to arterial or venous thrombosis. Inherited thrombophilia can be defined as a genetically determined predisposition to develop thromboembolic complications, while acquired thrombophilia can be associated with the presence of antiphospholipid antibodies, acquired hyperhomocysteinemia and several other conditions (Nicolaides 2005). In inherited thrombophilia thrombotic complications are usually limited to the venous side of circulation although also arterial thrombosis can be observed. Inherited thrombophilic defects include antithrombin deficiency, protein C and protein S deficiencies, activated protein C (APC) resistance, inherited hyperhomocysteinemia, factor V Leiden, prothrombin G20210A variant, dys- and hyperfibrinogenemia and elevated factor VIII levels (Francini et Veneri 2005). Recognition of thrombophilic defects has altered the diagnostic and therapeutic approach to patients with venous thromboembolism (VTE) and has had an important influence on counselling and screening of family members, especially women of childbearing age.
In comparison to VTE, the role of genetic predisposition for the pathogenesis of arterial occlusive disease (atherothrombosis) is unknown, although recent publications suggest a definite link. Certain thrombophilic defects have a definite pathophysiological role in atherothrombosis e.g. inherited or acquired hyperhomocysteinaemia. Other thrombophilic conditions, such as prothrombin gene G20210A polymorphism or factor V Leiden, have been investigated, but current evidence does not unequivocally support the hypothesis of a pathophysiological role in atherothrombosis. Routine screening for thrombophilia in patients with atherothrombosis is therefore not generally recommended on the basis of current evidence, but there is a role for selective screening (Bohm et Al-Khaffaf 2003).
Since some thrombophilic defects show geographical distribution (Rees et al 1995, Rosendaal et al 1998), the aim of the present study was to establish prevalence of thrombophilic defects in patients with venous and arterial trombosis in Macedonia.
| Item Type: | Project |
|---|---|
| Subjects: | Medical and Health Sciences > Basic medicine Medical and Health Sciences > Clinical medicine Medical and Health Sciences > Other medical sciences |
| Divisions: | Faculty of Medical Science |
| Depositing User: | Cena Dimova |
| Date Deposited: | 11 Dec 2012 08:59 |
| Last Modified: | 30 Sep 2013 11:22 |
| URI: | https://eprints.ugd.edu.mk/id/eprint/3062 |
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