Влияние генетических факторов на течение посттромботического синдрома нижних конечностей

Objectives. To study the incidence of gene mutations of the hemostatic system, genes involved in folate cycle and to reveal the dynamics in patients with postthrombotic syndrome (PTS) of the lower limbs. Methods. The study included patients (n=60) with deep venous thrombosis (DVT) of the lower limbs. Genetic analysis method using PCR was performed to detect the presence of mutations in factor V gene (blood clotting), also called Leyden Arg506Gln mutation; polymorphism of β-fibrinogen (FGB) 455G-A; mutations of methionine synthase reductase (MTRR) Ile22Met (66 a-g). All the patients underwent ultrasound duplex scanning of the lower limb veins. 12 months after DVT was ben diagnosed a comprehensive classification system (CEAP) has been applied to estimate PTS of the lower limbs. Results. Heterozygous carriers of Factor V Leiden gene mutation had been determined to be 15 (25%) patients; homozygous mutant allele was found in 12 (20%) cases. Disease was classified according to the CEAP system. PTS C3-4 had been found to be diagnosed among homozygotes for the mutant gene in 8 (66,7%) of 12 cases. Heterozygotes for the mutation of fibrinogen gene is observed in 18 (30%) patients with DVT, homozygote in 3 (5%). It has been noted that PTS C3-4 was found in all 3 (100%) cases of homozygous carrier. Mutation of the gene of methionine synthase reductase in a heterozygous variant was revealed in 25 (41,7%) cases, homozygous variant in 21 (35%). A high association of MTRR gene mutation with the class C3-4 occurred among homozygotes (16; 76,2%) and heterozygotes (10; 40%). Conclusion. In the presence of genetic mutations of the hemostatic system and folate cycle enzymes, a patient has a tendency to the development of edemic and trophic forms of PTS. Genotyping permits to choose the correct treatment strategy.