Impact of acquired and genetic factors on thrombophilic phenotype in FV Leiden mutation carriers

FV Leiden mutacija je veoma značajan genetički faktor rizika za pojavu venskog tromboembolizma (VTE). U okviru ove studije analizirana je klinička slika i uticaj stečenih i genetičkih faktora rizika u grupi od 100 bolesnika, nosilaca FV Leiden mutacije (95 heterozigota i 5 homozigota). Devedeset jedan bolesnik je imao VTE, sa trombozom dubokih vena donjih ekstremiteta kao najčešćom manifestacijom. Kod 68,6% žena bio je prisutan neki od stečenih faktora rizika, dok je to bio slučaj kod 28,6% muškaraca. Mutacija FII G20210A je detektovana kod 9,5%, MTHFR 677TT kod 8,4%, a obe mutacije su bile prisutne u 2,1% heterozigotnih nosilaca FV Leiden mutacije. Rezultati ove studije ukazuju na značaj poznavanja udruženih faktora rizika kod pacijenata koji su nosioci FV Leiden mutacije.FV Leiden mutation is an important genetic risk factor for venous thromboembolsm (VTE). In this study we have analyzed clinical manifestation and the impact of other genetic and acquired risk factors in 100 patients (95 heterozygous and 5 homozygous) carriers of FV Leiden mutation. Among these patients, 91 experienced VTE, with down limb deep vein thrombosis as the most frequent manifestation. An acquired risk factor was present in 68.6% of women, whereas this was the case in 28.6% of men. FIIG20210A was present in 9.5%, MTHFR 677TT in 8.4% and both mutations in 2.1% of the heterozygous FV Leiden carriers. Our results suggest that knowledge of coexisting factors predisposing to VTE is very important for FV Leiden mutation carriers and may contribute to the prevention of VTE episodes