Abstract
Factor V Leiden (FVLeiden) and prothrombin G20210A are the most common genetic causes of thrombophilia and established risk factors for different clinical manifestations of venous thromboembolism (VTE). This study investigated whether the clinical manifestation of VTE, the extension of deep vein thrombosis (DVT) and the presence of transient risk factors at the time of the first VTE, differed among patients with mutations (97 with FVLeiden; 33 with prothrombin G20210A) and in 109 patients without thrombophilia. Isolated pulmonary embolism (PE) was less prevalent in patients with FVLeiden (6%) and no thrombophilia (6%) than in those with prothrombin G20210A (15%). No difference was found in the incidence of distal DVT. Regarding the extension of proximal DVT, the lowest incidence for isolated popliteal vein and the highest for iliofemoral vein were observed in patients with prothrombin G20210A. No difference was observed between groups of patients with or without thrombophilia by unprovoked VTE. The pregnancy/puerperium was the most prevalent risk factor in carriers of prothrombin G20210A. Among FVLeiden carriers, the most prevalent risk factor was surgery, and in patients without thrombophilia, it was trauma (P < .05). Thrombosis of the upper limb was more frequent in a group without thrombophilia than in patients with mutations (P < .01). Transverse sinus venous thrombosis was present only in patients with prothrombin G20210A. Carriers of prothrombin G20210A have an increased risk of developing isolated PE and more severe clinical manifestations than those with FVLeiden or without thrombophilia.
Highlights
From the Blood Transfusion Institute of Serbia, Belgrade, Serbia (MK, DM); Institute of Laboratory Medicine, Clinical Center of Vojvodina, Novi Sad, Serbia (GM); Gynaecology and Obstetrics Clinic Narodni Front, Belgrade, Serbia (ZM, VM); Institute of Cardiovascular Diseases, Clinical Centre of Serbia, Belgrade (NA); and Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia (VD, LR, DR)
FVLeiden and Prothrombin G20210A and Type/Location of VTE / Kovac et al 67. Both mutations are correlated with an increased amount of thrombin formation and are established risk factors for different clinical manifestation of venous thromboembolism (VTE).[4,5]
Venous thromboembolism has a wide spectrum of clinical manifestations and many factors could play different role in determining the various locations of deep vein thrombosis (DVT) and its major complication—pulmonary embolism (PE)
Summary
The most common genetic causes of thrombophilia are two mutations in the genes coding for coagulation factor V and prothrombin, G→A substitution at gene position 1691 (factor V Leiden or FVLeiden), and the noncoding G→A mutation at gene position 20210 (prothrombin G20210A), respectively The former mutation renders activated FV partially resistant to the inactivation by its naturally occurring anticoagulant protein C, and prothrombin mutation is associated with increased plasma levels of prothrombin to approximately 30%.1-3. We investigated the extension of DVT and the presence of transient risk factors at the time of first VTE in these groups of patients
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