Retrospective evaluation of venous thromboembolism cases regarding clinical characteristics, risk factors and genetic mutation at Dokuz Eylul University Cardiovascular Surgery Department

Venous thromboembolism (VTE) is the leading cause of considerable morbidity and mortality worldwide. It also results in loss of employment-power and consumption with large economic burden. There are many papers in the literature regarding the effective factors for recurrence of VTE. The existence of genetic mutation as a subject of influencing factor on recurrence is under debate. Furthermore, these different point of views cause different opinions about the timing of genetic mutation analysis and the anticoagulant treatment duration in cases with genetic mutation.The aim of this study is to reveal the demographic and clinical characteristics, risk factors, associated genetic mutations with type and inter-cooperations in VTE cases along with the effect of these features on recurrence of VTE.Between 2008 and 2009, 109 case diagnosed, treated or followed up and have already been evaluated for genetic mutation at Dokuz Eylül University, Faculty of Medicine, Cardiovascular Surgery department constitudes the study group. The study was performed retrospectively and cross-sectionally. Cases, already evaluated for genetic mutation were selected retrospectively from hospital archive and the forms filled up in the direction of designated datas.The mean age of study group was 42,6±14 (17-65) years. 33 case (30,3%) had primary VTE (pVTE). While 59 case (54,1%) were male, 50 (45,9) were female. While the first episode of VTE occured in hospital in 29 cases (26,6%), 80 case (73,4%) complained outside of hospital. The most common two risk factors were found to be genetic mutation (90,8%) and history of VTE (42,2%). The existence of genetic mutation was also found to be the most common risk factor among both in-hospital (96,6%) and outside of hospital (88,8%). Factor V Leiden (FVL) was found in 36 (33%), Prothrombin G20210A in 16 (14,7%), Methylenetetrahydrofolate reductase (MTHFR) C677T in 65 (59,6%) and MTHFR A1298C in 47 (43,1%) cases. While genetic mutation was present in 93,9% of cases with primary VTE, it was found in 89,5% of cases whose VTE was not primary. The significant factors on the recurrence of VTE was; age of 40 years and more (?2=5,57, p=0,018), sum of the risk factors per case (?2=64,27, p<0,001), history of surgery (?2=7,52, p=0,006), existence of a medical illness (?2=8,8, p=0,003), malignant neoplasm (?2=4,67, p=0,031), the occurence of the first episode in hospital (?2=8,8, p=0,003), genetic mutation (?2=4,68, p=0,042), increase in sum of the genetic mutation per case (?2=21, p<0,001), FVL mutation (?2=13,2, p<0,001) and cooperation of FVL and MTHFR mutation (?2=23,43, p=0,003). The risk of the recurrence of VTE was 3,34 times more in cases with one genetic mutation, 11,12 times more in cases with two and 49,5 times more in cases with three and more genetic mutations. In further analysis, while there were no significant difference in recurrence rate between cases without genetic mutation and in cases with one genetic mutation, it was found that the significance of the difference was enpowered along with the increasing number of genetic mutations per case. In binary logistic regression analysis, it was determined that the significance in age of 40 years and more [OD:9,1 (95% CI:1,7-48,4), p=0,01], every one unit increases in total risk factors [OD:18,36 (95% CI:5,4-62,6), p<0,001], every one unit increases in total genetic mutation [OD:6,7 (95% CI:2-21,7), p=0,001], the history of surgery [OD:7,7 (95% CI:2,1-28,3), p=0,002], the existence of medical illness [OD:8,3 (95% CI:2,3-29,8), p=0,001] and the existence of malignant neoplasm [OD:8,7 (95% CI:1,5-49,5), p=0,015] were continuing.This study reveals the existence of genetic mutation as an important factor on recurrence of VTE. The increased risk of recurrence in increasing total number of genetic mutations and risk factors, along with the genetic mutation as an unmodifiable condition, becomes a current issue, the question of conducting genetic mutation analysis in all cases with VTE. Although the genetic mutation analysis is recommended in cases with pVTE, the determination of genetic mutation in 89,5% of cases without pVTE supports our opinion that all cases with VTE ought to be analysed at their first episode of VTE. Because the existence of genetic mutation increases the risk of recurrence and the consequences of recurrent events on loss of employement-power, economic burden along with morbidity and mortality, we recommend to perform genetic mutation analysis at the first event and to anticoagulate individuals with combined genetic mutations, except MTHFR C677T-MTHFR A1298C, lifelong.Keywords: venous thromboembolism, recurrence, genetic thrombophilic mutations.