The Thrombophilic Pattern of Different Clinical Manifestations of Venous Thromboembolism: A Survey of 443 Cases of Venous Thromboembolism

Abstract

Although pulmonary embolism (PE) and deep vein thrombosis (DVT) share many risk factors, it is uncertain whether thrombophilic abnormalities may impact differently on the development of these two clinical manifestations of venous thromboembolism (VTE). To give further insight into this issue, we estimated the association of PE with different types of thrombophilia and evaluated whether these abnormalities have a different prevalence in patients presenting with PE, alone or associated with DVT, as compared with those with isolated DVT. In this study 443 consecutive patients with a first episode of VTE and 304 matched healthy controls underwent laboratory screening for thrombophilia, including natural anticoagulants, factor V Leiden and prothrombin G20210A polymorphisms, antiphospholipid antibodies, homocysteine, factor VIII, and lipoprotein(a). Of the 443 patients, 224 patients had isolated DVT, 144 had combined DVT/PE, and 75 had isolated PE. At least one thrombophilic abnormality was detected in 72.8% of DVT, 66% of DVT/EP, and 60% of isolated PE patients. A high prevalence of hyperhomocysteinemia and elevated lipoprotein(a) levels was found in all patients with no significant differences among the three groups. The prevalence of prothrombin G20210A polymorphism and of elevated factor VIII levels was significantly higher in patients with DVT and DVT/PE than in controls, but not in those with isolated PE, whereas factor V Leiden polymorphism was associated with isolated DVT but not with DVT/PE or isolated PE. In conclusion, the thrombophilic burden seems different in isolated PE versus DVT with or without PE, suggesting that PE may encompass a different pathophysiological process of thrombosis to DVT.

Lipoprotein(a) as a Risk Factor for Venous Thromboembolism: A Systematic Review and Meta-analysis of the Literature

“…Thus, 14 studies for a total number of 2,824 cases of VTE and 11,187 controls were included in our systematic review. [13][14][15][16][17][18][19][20][21][22][23][24][25][26] Baseline characteristics of the included studies are summarized in ►Table 1. Only one study provided separate data of patients with unprovoked VTE 22 and two studies also included patients with two or more episodes of VTE (15.5% in the study by Vormittag et al and 23% in the study by Marcucci et al).…”

“…18,22 Association between Lp(a) value and the risk of VTE was evaluated in 10 studies 13-22 for a total of 2,607 VTE patients and 10,934 controls. Lp(a) cut-off used for the analysis was the upper limit of the manufacturer's product reference range (usually 300 mg/L) in nine studies [13][14][15][16][18][19][20][21][22] and the 75th percentile of Lp(a) value in the control group in one study. 14 Lp(a) was significantly associated with an increased risk of VTE (OR: 1.56, 95% CI: 1.36, 1.79; ►Fig.…”

Lipoprotein (a): truly a direct prothrombotic factor in cardiovascular disease?

“…Against this backdrop, it might be expected that elevated plasma concentrations of Lp(a) would be a risk factor for various types of venous thrombosis. Historically, the results of such studies have been mixed, with evidence both for (121)(122)(123) and against (124-128) a role for elevated Lp(a) as a risk factor for different kinds of venous thrombosis in adult populations.…”

Hyperhomocysteinemia and of Methylenetetrahydrofolate Reductase (C677T) Genetic Polymorphism in Patients with Deep Vein Thrombosis

“…Therefore, transformation of prothrombin into thrombin is intensified, which results in an increased creation of fibrin that is responsible for the coagulation cascade process. Moreover, increased platelets aggregation and endothelial adhesion are also involved in this cascade process (3, 4). …”