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Venous thromboembolism is a multifactorial disorder with two manifestations:   deep-vein thrombosis and pulmonary embolism. Pulmonary embolism is usually   considered as the complication of deep-vein thrombosis, but there are   reported cases of isolated pulmonary embolism. FV Leiden and FII G20210A   mutations are most common genetic risk factors for the venous   thromboembolism. Several studies reported "FV Leiden paradox": lower   prevalence of FV Leiden mutation among patients with isolated pulmonary   embolism than among those with deep-vein thrombosis. The aim of this study   was to determine FV Leiden and FII G20210A mutations frequency in   thrombophilic patients in Serbian population. We tested prevalence of these   mutations carriers in 1427 individuals divided in three groups of patients   (with deep-vein thrombosis, deep-vein thrombosis/ pulmonary embolism and   isolated pulmonary embolism) and control group. All subjects were tested for   these mutations using PCR-RFLP analysis. Detected frequency of FV Leiden   heterozygous carriers in patients with isolated pulmonary embolism was 6.9%   (for FII G20210A 11.6%), while in other two groups of patients with deep-vein   thrombosis and deep vein thrombosis/pulmonary embolism, frequency was 18.6%   (for FII G20210A mutation were 11.6% and 8.3%, respectively). Our results   showed that FV Leiden mutation is less frequent in patients with isolated   pulmonary embolism than in patients with deep-vein thrombosis or deep-vein   thrombosis accompanied with pulmonary embolism, confirming "FV Leiden   paradox". On the other hand, detected frequency of FII G20210A mutation   carriers was similar in all three groups of patients. [Projekat Ministarstva   nauke Republike Srbije, br. 173008

genetika

The frequencies of FV Leiden and FII G20210A mutations in patients with different clinical manifestations of venous thromboembolism: Experience from large Serbian cohort