Phlebothrombosis and congenital thrombophilia

Shevela A.I., Egorov V.A., Sevostyanova K.S., Novikova Ya.V., Filippenko M.L.
Centre for Novel Medical Technologies of the Institute of Chemical Biology and Fundamental Medicine under the Siberian Branch of the Russian Academy of Medical Sciences,
Novosibirsk, Russia

Foreign researchers have actively been studying the effect of certain gene polymorphisms on the development of venous thromboembolism in various anatomical regions, with such studies being merely sporadic so far in Russia. We examined a total of one hundred and fifty-seven patients diagnosed with deep vein thrombosis and forty people constituting the control group. It was determined that the presence of the factor V Leiden mutation increased by up to 15-fold the chance of developing venous thrombosis, especially an idiopathic one and in the young age; the C7351T polymorphism of tissue plasminogen activator increased the risk of the development of idiopathic venous and early thrombosis up to 5-12-fold, whereas the C677T polymorphism of methylenetetrahydrofolate reductase increased it 2-fold only. The rest polymorphisms of the genes of the plasmatic, thrombocytic haemostasis and the folate cycle enzymes along 14 loci appeared to exert no significant influence on the development of venous thrombosis. Based on the findings obtained in the genetic analysis, it is even now possible to carry out appropriate correction of conservative therapy in patients presenting with acute and chronic venous pathology.

KEY WORDS: venous thrombosis, thrombophilia, genes, polymorphisms.

P. 99

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