Influence of Acquired and Genetic Risk Factors on the Prevention, Management, and Treatment of Thromboembolic Disease

Abstract

Prevention, management, and treatment of venous thromboembolism requires understanding of the epidemiology and associated risk factors, particularly in recognizing populations warranting prophylaxis, in evaluating patients with high risk situations, and in determining the duration of anticoagulation required to minimize recurrent thrombosis and to avoid postthrombotic syndrome. The present paper reviews recent advances concerning acquired and genetic risk factors for venous thrombosis, analyses individual risks related to age, and focuses on thrombotic genetic risk factors and the synergistic gene-environment and gene-gene interactions and their importance in the management and treatment of venous thromboembolic disease.

Hereditary thrombophilia risk factors in patients with venous thromboembolism

“…In our study, MTHFR C677T TT (homozygous) ratio was 10.3% in VTD patients. MTHFRA 1298 C mutation has been detected as 4.8% in the VTD patients, and it has been reported to increase the VTD risk (20). In our study, the rate of MTHFRA 1298 CC homozygous mutation was 14% in VTD patients.…”

“…Factor V G1691A mutation is the most common cause of hereditary thrombophilia (8,10). The incidence of this mutation is between 2-14% in the population (20). In our study, the rate of Factor V heterozygous Leiden mutation was statistically significant higher in the VTD patients.…”

“…Moreover, factor V G1691A mutation was statistically significantly higher in the DVT and CVT patients. Factor V H1299R mutation was seen in 2.3% of the population; while it was found as 24.3% in our study (20). Prothrombin G20210A mutation was seen at 6% in VTD; while it was found as 7.5% in our study (2,10).…”

“…Prothrombin G20210A mutation was seen at 6% in VTD; while it was found as 7.5% in our study (2,10). If the enzyme activity decreases as a result of the mutation in the MTHFR enzyme gene, the plasma homocysteine level increases and it is a risk factor for venous thrombosis (2,9,20). Sixty percent of the white race carry the MTHFR allele, of which 1.4-15% are TT (homozygous) (10).…”

Allergy and Venous Thromboembolism: A Casual or Causative Association

“…3,4 The relative contribution of additional conditions (i.e., obesity, infections, oral contr ceptives, hyperhomocysteinemia, factor V Leiden, prothrombin gene mutation, among others) is still debated but unquestionably lower than that of the major risk factors (►Table 2). [5][6][7] As specifically regards the pathogenesis of VTE, it is now widely accepted that the original concept formulated by the German physician Rudolf Virchow in 1856 (i.e., the so-called "Virchow triad) 8 should be considered as relevant now as when originally conceived. In brief, venous thrombosis conventionally originates from the combination of three synergic abnormalities: endothelial dysfunction, hemorheological abnormalities, and alterations of platelet biology and coagulation factors activity.…”