Year 2016 Vol. 24 No 2

GENERAL & SPECIAL SURGERY

R.E. KALININ, I.A. SUCHKOV, I.N. RUDAKOVA, A.A. NIKIFOROV

INFLUENCE OF GENETIC FACTORS ON THE COURSE OF POST-THROMBOTIC SYNDROME OF THE LOWER LIMBS

SBE HPE "Ryazan State Medical University named after Academician I.P. Pavlov",
The Russian Federation

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.

Keywords: postthrombotic syndrome of the lower limbs, genetic mutation, coagulation system, folate cycle, Leiden mutation, fibrinogen, methionine synthase reductase
p. 125-130 of the original issue
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Address for correspondence:
390026, Russian Federation,
Ryazan, ul. Vyisokovoltnaya, d. 9,
GBU VPO "Ryazanskiy gosudarstvennyiy
meditsinskiy universitet imeni akad. I.P. Pavlova",
kafedra angiologii, sosudistoy,
operativnoy khirurgii i topograficheskoy anatomii.
e-mail:Suchkov_med@mail.ru,
Suchkov Igor Aleksandrovich
Information about the authors:
Kalinin R.E. MD, professor, Rector of SBE HPE "Ryazan State Medical University named after Academician I.P.Pavlov", a head of angiology, vascular, operative surgery and topographic anatomy chair.
Suchkov I.A. MD, an associate professor of angiology, vascular, operative surgery and topographic anatomy chair of SBE HPE "Ryazan State Medical University named after Academician I.P. Pavlov".
Rudakova I.N. A post-graduate student of angiology, vascular, operative surgery and topographic anatomy chair of SBE HPE "Ryazan State Medical University named after Academician I.P.Pavlov".
Nikiforov A.A. A head of Scientific Research Laboratory of SBE HPE "Ryazan State Medical University named after Academician I.P.Pavlov".
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