Thrombophilia genetic testing in Romanian young women with acute thrombotic events: role of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and A1298C polymorphisms / Evaluarea genetică a trombofiliilor la femei tinere din România cu evenimente acute trombotice: rolul Factorului V Leiden, Protrombinei G20210A, polimorfismelor MTHFR C677T și A1298C

Abstract

Objective: The present case-control study aimed at evaluating the contribution of thrombophilic polymorphisms to acute venous (VTE) as well as arterial thrombotic events (ATE) in a population of young women with few traditional thrombotic factors (CVRF

Laboratory medicine in the era of precision medicine – dream or reality?

“…Detection of single nucleotide polymorphism (SNP) 1691G>A of F5 gene (factor V Leiden, FVL -the most common hereditary hypercoagulable disorder among Eurasians), 20210G>A of F2(prothrombin) gene and MTHFR (methylenetetrahydrofolate reductase) C677T and A1298C polymorphisms in patients with deep venous thrombosis; in young Romanian women homozygosity for FVL and for MTHFR A1298C polymorphisms increase the risk for venous thrombosis (22) Mutations in any of the three genes LDLR (low density lipoprotein receptor), APOB (apolipoprotein B) and PCSK9 (Proprotein convertase subtilisin/kexin type 9) are known to cause autosomal dominant familial hypercholesterolemia, FH (the most prevalent genetic disorder in the general population and a major risk factor for atherosclerosis); cascade screening in descendings from patients with premature acute myocardial infarction permit prophylactic approach. However, FH is underevaluated and probably underestimated, mainly due to the relatively low proportion (~ 40%) of monogenic mutations found in subjects with clinical diagnosis of FH (according to DUTCH LIPID CLINIC NET-WORK DIAGNOSTIC, MEDPED or Simon Broome criteria).…”