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Hereditary thrombophilias - which of them should be diagnosed using genetic tests?

Publication at First Faculty of Medicine |
2012

Abstract

Thromboembolic disease (VTE) is a disease that significantly increases morbidity and mortality in those suffering from it. In about 40 to 50% of patients with VTE it is now possible to prove the disease as being dependent on hereditary factors.

The article reports the frequencies of FV Leiden, FII G20210A, PAI-1 4G/5G and new thrombophilic mutations GP 6 (Ser 219 Pro), Serpin C1 (IVS +141 G > A a CYP4V2 (Lys 259 Gln), which were detected among our healthy population. From both the clinical and economical perspective, however, it is still recommended to perform genetic testing only for FV Leiden and FII G20210A.