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Aim. The search for genetic markers of ADIPOQ, associated with the level of adiponectin and development of coronary atherosclerosis.Material and methods. To the study, patients included, who had undergone diagnostic coronary arteriography in 2011-2012 in the NMRCPM with assessment of the severity of coronary atherosclerosis. The level of adiponectin was measured in plasma with the test-system based on the immune enzyme analysis. Genetic variants rs17300539, rs182052 and rs266729 gene ADIPOQ were measured realtime (Applied Biosystems, 7500 Real Time PCR System). Alleles of the studied variants were summarized by a unified score of genetic risk (SGR).Results. To the study, 447 patients included, of those 319 males (70,7%). Median of age was 61 [55-69] y.o. All patients were selected to 2 groups by SGR (≤2 and >2, respectively). Groups differed by the level of adiponectin 7,64 vs 8,29 mcg/mL (р=0,01), total cholesterol 4,60 vs 5,00 mM/L (p=0,03), cholesterol of low density lipoproteides 2,8 vs 3,09 mM/L (p=0,03), and the rate of unstable angina development 2,15% vs 6,8% (р=0,02) and type 2 diabetes 11,8% vs 21,1% (р=0,01), respectively. There was no difference in the groups by Syntax and Gensini score.Conclusion. Genetic score based on the three variants of ADIPOQ does determine the plasmatic level of adiponectin and risk of unstable angina and diabetes, but not the grade of coronary atherosclerosis.

Aim. To reveal the associations of carotid arteries atherosclerosis severity and cardiovascular events in mostly middle aged population.Material and methods. In the study, 1100 persons participated of the ATHEROGEN-Ivanovo trial (substudy of ESSE-RF), age 40-67 y. o. All participants underwent duplex scan of carotid arteries (Samsung Medison MySono U6) with assessment of the number of atherosclerotic plaques (AP), maximum stenosis and total stenosis with calculation of gender-specific quintiles. With the Cox regression model, risk was estimated for combinatory endpoint including all-cause death, myocardial infarction, novel onset of coronary heart disease, stroke, any area revascularization. Median follow-up 3,8 years.Results. The AP were found in 74,5% males and 58,0% females. In males atherosclerosis was more severe: maximum stenosis 27 (0-34)% in males vs 22 (0-58)% in females (р

Aim. To study the incidence of arterial hypertension (HT) and prevalence of risk factors and occupational factors (OF) among people with HT on the base of engineering plant within "The program of formation of healthy lifestyle and prevention of chronic non-communicable diseases among the contingent, attached for the medical assistance for the period 2012-2016".Material and methods. The study included men (n=586), aged 20-65 years – the workers of the engineering plant directly involved in the works in conditions of industrial occupational exposures. These specified works occupied not less than 50% of the general time, and work experience at the enterprise in examined workers was at least 5 years.Results. All examined people were divided into 2 groups according to the office blood pressure (BP) levels: without HT – 380 people (64.8%) and with HT – 206 patients (35.2%). HT was observed more often among people without higher education (39.2 vs 28.3%; р

Elevated level of plasma cholesterol, together with arterial hypertension, is the main modifiable factor of cardiovascular diseases (CVD) development. Monitoring of lipid levels at populational level is an important instrument of the prevention medicine, applied for CVD populational risk assessment.Aim. Blood lipid levels assessment, with the data obatined during epidemiological study “ESSE-RF” (Epidemiology of cardiovascular diseases in various regions of Russian Federation) in 13 regions of Russia.Material and methods. In the study, the patients were included, of 25-64 y.o. All participants underwent specimens collection for total cholesterol (TC), triglycerides (TG), high density lipoproteides cholesterol (HDL-C) and low density lipoproteides cholesterol (LDL-C) by enzymatic methods on automatic analyzer Abbott Architect 8000. Also, in all the participants, hypolipidemic therapy was evaluated.Results. Totally, 21167 persons included into analysis, 7937 males and 13230 females. 807 (3,81%) had been taking hypolipidemic therapy and were ruled out from further analysis. Mean age 44±12 and 47±11 y.o., respectively. Mean values for men were TC 5,31±1,15 mM/L, TG 1,58±1,24 mM/L, HDL-C 1,30±0,33 mM/L and LDL-C 3,38±0,99 mM/L (7643 persons), for women — 5,48±1,18 mM/L, 1,36±0,85 mM/L, 1,47±0,35 mM/L and 3,42±1,04 mM/L, respectively (12717 persons). In the study we present percentile variations of the studied groups by the measured levels of TC, TG, HDL-C, LDL-C according to the age and sex. There were moderate correlations found of HDL-C with age and sex (r=0,34, p=0,000) and LDL-C (r=0,33, p=0,000). Correlation of TG with age and sex was low, but significant (r=0,18, p=0,000). There was no correlation of HDL-C with age and sex (r=-0,002, p=0,740). Also, a high prevalence is shown for severe lipid disorders. 23% of the participants had severely increased TC level (>6,2 mM/L), and 20,6% — of LDL-C (>4,2 mM/L). Severe increase of TG (>5,0 mM/L) was found much more rarely (1,1%).Conclusion. In the ESSE-RF study the prevalence of significant lipid disorders was shown as high, that demands respective prevention and management. This study might be a starting point for lipids populational dynamics analysis in Russia.

Aim. To estimate the effectiveness of lipid-lowering therapy (LLT) at outpatient and hospital treatment stages in patients at high and very high cardiovascular risk during 2011-2015.Material and methods. In a cross-sectional epidemiological study we analyzed LLT in hospital patients for the period April-May 2011, 2012 and 2015. All data were obtained from randomly selected case-records of patients (n=548; 20% of all hospital patients over the study period). Risk categories of patients as well as target levels of low density lipoprotein (LDL) cholesterol were determined according to the current clinical guidelines for the respective year. Outpatient LLT was administered in local out-patient clinics and hospital one – in the clinic of State Research Centre for Preventive Medicine.Results. The most commonly prescribed group of lipid-lowering drugs was statins, while combined treatment or monotherapy with other lipid-lowering agents were used only in rare cases. From 2011 to 2015 the proportion of patients taking statins before admission increased from 20% to 49.8% (from 23.1% up to 29.6% of patients at high cardiovascular risk and from 28% up to 68.5% of patients at very high cardiovascular risk, respectively). During hospitalization the proportion of individuals receiving statins increased from 49.8% to 72.9%, from 29.6% to 74% and from 68.5% to 95.3% in general group, among patients at high and very high cardiovascular risk, respectively. In 2015 LDL cholesterol target levels were achieved in 14.8% and 7.1% of patients at high and very high risk, respectively. In-hospital rate of simvastatin administration reduced from 33.6% to 0.5%, whereas prescription of atorvastatin and rosuvastatin increased from 31.4% to 64.5% and from 3.6% to 9.9%, respectively. Average dose of statins (in conversion to atorvastatin) increased from 10 mg to 20 mg in high-risk patients and from 10 mg to 40 mg – in very high risk group.Conclusion. Positive trend in frequency of LLT prescription was demonstrated in patients at high and very high cardiovascular risk during 2011-2015. Nevertheless, significant number of patients in out-patient clinics still remains under non-optimal treatment.

Large epidemiological trails shown that hypercholesterolemia is one of the main risk factor of ischemic heart disease (IHD). Correction of the hypercholesterolemia with GmGKoA reductase inhibitors (statins) essentially reduces IHD morbidity and mortality. The lower serum level of low density lipoprotein is - the lower risk of cardiovascular diseases and their complications are. Efficacy and safety of atorvastatin therapy in high doses is discussed in patients with IHD and dyslipidemia. Atorvastatin in high doses is more effective than standard therapy for prevention of cardiovascular complications. Atorvastatin is also effective in patients with recurrent cardiovascular events. Atorvastatin in high doses is safe and well tolerated. Serious side effects due to atorvastatin use (myopathy and rhabdomyolysis) are very rare. Generic atorvastatin 80 mg OD in ATLANTIC study was effective and safe. However efficacy and safety of other atorvastatin generics in dose of 80 mg OD is not well studied and it is necessary further studies.

Platelets play an important role in the pathogenesis of atherosclerosis. They are involved in atherosclerosis progression and thrombotic complications. That is why antiplatelet therapy is a necessary element of these complications prevention in patients with coronary heart disease. One of the most commonly used antiplatelet agents all over the world is clopidogrel, R2Y12-receptor blocker. It is shown that clopidogrel has insufficient effect in some patients, ie they are resistant to clopidogrel. Genetic causes of resistance to clopidogrel are considered in this review. It is shown that genetic factors related to the metabolism of clopidogrel play an important role in the resistance development. Allel variants of the gene cytochrome CYP2C19 are the main among them. The role of other genes is less studied.

Smoking is one of the main factors of a wide range of diseases as ischemic heart disease, stroke, chronic obstructive pulmonary disease. To know mechanisms of smoking influence on the course of these diseases might lead to discovery of novel methods of diagnostics and prevention. Recent studies showed the impact of smoking on epigenetic mechanisms of heredity, particularly on the status of DNA methylizing. Current review focuses on the analysis of smoking influence of DNA methylizing. There are >60 genes described, methylizing of which is related to smoking. There is relation of methylizing level of genes AHRR, MMP25, PTGDS, WWC3, SASH1 not only with smoking but atherosclerosis.

Currently, cardiovascular diseases (CVD) remain the main problem in the world and in Russia in particular. The study of the causes and progression of atherosclerosis is a critical moment in the fight against CVD. Adipose tissue and processes that occur in it attracts attention in recent years. The important role of adipose tissue as an endocrine and immune organ is revealed as well as its participation in the development of the inflammatory process. This leads to the development of initial manifestations of atherosclerosis a precursor of many metabolic disorders and CVD. Particular attention causes adipokines regulatory peptide hormones in the adipose tissue, as well as insulin, due to its close relationship with the adipose tissue and especially with adiponectin and leptin. Recent data on the role of adiponectin, leptin and insulin in the pathogenesis of atherosclerosis in order to identify new potential targets among peptide hormones for the treatment of atherosclerosis are presented.

Clinical case study is described. Patient D, 55 years old, applied to the Lipid clinic of State Research Centre for Preventive Medicine because of low blood cholesterol level. Results of the differential diagnosis of the hypocholesterolemia syndrome by using exomic sequencing are presented. This method allows to sequence the majority of regions of genome containing exons, protein-coding parts of genes. Heterozygous mutation in the gene for APOB (5 nucleotides deletion) was found out in the patient by using exomic sequencing. This mutation leads to a premature stop codon with violation of apolipoprotein B-100 synthesis and causes inherited monogenic disease - family hypobetalipoproteinemia.

Aim. To estimate risk factors and comorbidity structure, cardiovascular diseases outcomes, evaluate their diagnostics and treatment quality in real outpatient practice using a register of patients with arterial hypertension (HT), ischemic heart disease (IHD), chronic heart failure (CHF) and atrial fibrillation (AF) in the Ryazan Region – the territorial subject ofRussian Federation with high cardiovascular mortality rate.Material and methods. The total of 1000 HT, IHD, CHF, AF patients, applied for general practitioners or cardiologists of theRyazan outpatient clinics in March-May of 2012 were sequentially enrolled in the outpatient REgister of CardioVAscular diseases (RECVASA).Results. According to outpatient cards data HT, IHD, CHF and AF were diagnosed in 99.0%; 70.9%; 74.8% and 13.7% of the 1000 cases, respectively. 820 (82%) patients revealed a concomitant cardiovascular pathology (cardiac comorbidity), at that the most frequent was combination of HT with IHD and CHF (50.4%). Diabetes mellitus was diagnosed in 209 (20.9%) patients. 770 (77%) patients were assessed on their total cholesterol level; smoking status and family history of heart diseases were estimated in 28 (2.8%) and 49 (4.9%) patients, respectively. Exercise tolerance test (stress-test) was carried out in 2% of the patients (including 2.8% of the IHD patients), 24-hour blood pressure (BP) and ECG monitoring – in 0.7% and 5.5%, respectively; echocardiography and ultrasound of brachiocephalic arteries (BCA) – in 25.6% and 8.6%, respectively; coronary angiography – in 1.6% (which includes 2.3% of the IHD patients). The following drug groups were prescribed most frequently: antiplatelet agents – in 60.4% of the cases (584 patients received acetylsalicylic acid and 20 – clopidogrel), ACE inhibitors – in 62.9%, β-blockers – in 43.9% of the patients. Target BP level was achieved in 245 of 956 cases (25.6%). 50.6% of IHD patients and 51.1% of hypercholesterolemic patients received statins.Conclusion. The pilot stage of the RECVASA study revealed a high incidence rate of cardiac comorbidity (82%) in patients with hypertension, IHD, CHF and AF, insufficient estimation of cardiovascular risk factors, inadequate frequency of stress-tests, 24-hour BP and ECG monitoring, echocardiography, BCA sonography, coronary angiography use, as well as a scarce prescription of warfarin in AF and statins in hypercholesterolemic patients. Improvement of correspondence to national guidelines is the main reserve for enhancement of diagnostics and treatment quality in patients with HT, IHD, CHF, AF and hypercholesterolemia.

Aim. To study what cardiac drugs currently have any comments on biomarkers and what information can be obtained by pharmacogenetic testing using data exome sequencing in patients with cardiac diseases.Material and methods. Exome sequencing in random participant of the ATEROGEN IVANOVO study and bioinformatics analysis of the data were performed. Point mutations were annotated using ANNOVAR program, as well as comparison with a number of specialized databases was done on the basis of user protocols.Results. 11 cardiac drugs and 7 genes which variants can influence cardiac drug metabolism were analyzed. According to exome sequencing of the participant we did not reveal allelic variants that require dose regime correction and careful efficacy control.Conclusion. The exome sequencing application is the next step to a wide range of personalized therapy. Future opportunities for improvement of the risk-benefit ratio in each patient are the main purpose of the collection and analysis of pharmacogenetic data.

Hypercholesterolemia is a proven risk factor for atherosclerotic cardiovascular diseases and for their complications.Aim. To assess the quality of diagnosis and treatment of patients with severe hypercholesterolemia (total cholesterol >6.2 mmol/L) in the real outpatient practice.Material and methods. All patients with a diagnosis of arterial hypertension, ischemic heart disease, chronic heart failure, atrial fibrillation applied to primary care physicians or cardiologists in one of the randomly selected out-patient clinic of Ryazan in March-May 2012 and included into the RECVASA registry were enrolled into the study group (n=1642).Results. The group of patients with severe hypercholesterolemia consisted of 561 (44%) patients at the age of 67 (59-75) years [Me (25% -75%)]. At that, diagnosis of hyperlipidemia was indicated only in 9% of outpatient cards. Data of one or more blood chemistries including low density cholesterol (LDC) levels were presented only in 7% of outpatient cards. 83.7% of patients with severe hypercholesterolemia were classified as patients at high or very high cardiovascular risk, but statins were recommended only to 17.8% of them. Statins were mainly recommended in moderate doses; only one patient took atorvastatin 40 mg per day. Blood LDC levels were examined only in 5% of patients during statins therapy; nobody of them reached target LDC levels.Conclusion. The study data revealed the presence of a high prevalence of severe hypercholesterolemia in patients with cardiovascular diseases and poor quality of diagnosis and treatment in these patients in the real outpatient practice.

Aim. To study social and economic gradients — educational and occupational statuses, wealth level, behavioral risk factors (FR) in Russian population by the ESSE-RF data.Material and methods. The data for the analysis consisted of representative selections of 13 regions of RF (n=22906) participants of the study, incl. men (n=8353) and women (n=13553) of 25-64 y.o., with response 80%. We calculated the odds ratios for the presence of behavioral FR: smoking, excessive alcohol consumption, insufficient physical activity (IPA), nonrational food consumption, anxiety and depressive disorders, — in persons from different social and economic groups by education level, type of inhabitation, professional status, wealth level.Results. Higher education was associated with better FR profile, except IPA (negative association) and alcohol consumption (absence of association). "White in general had less FR probability than Blue, excl. IPA and psychoemotional deviations (in men). As for the wealth association with the FR there is backward gradient, i.e. lesser the income, higher the risk of FR presence, excl. IPA and excessive alcohol intake in women. For example, in very wealthy men the odds ratio for depressive states was 3,09 [95% CI 2,08-4,57] comparing to the persons with low income. The type of territory of inhabitance was associated with less behavioral FR in Russian population, as significant associations are found only for depression and excessive salt consumption in both genders and IPA in men. Conclusion. The significant social and economic gradients of behavioral FR prevalence are found, the direction of those is not necessary the same as in European countries. The analysis of association with social and economic parameters would help to develop the directed preventive interventions.

Aim. To evaluate, under the frame of prospective registry, the 12-month outcomes and risks in patients with arterial hypertension (AH), ischemic heart disease (CHD), chronic heart failure (CHF) and atrial fibrillation (AF) in the real outpatient practice in Ryazan Region. Material and methods. Into the outpatient registry RECVASA (REgistry of CardioVAScular diseases) totally 3690 patients included with AH, CHD, CHF, AF and their comorbidity, visited 3 outpatient institutions in Ryzan city: 1047 (28%) of men and 2643 women, mean age 66,1±12,9 y.o. The estimation of 12-mint risk of events fter inclusion in registry RECVASA was done for 3619 (98,1%) participants. Results. By 12 month after inclusion 168 patients (4,6%) died, had stroke (S) — 62 (1,7%), myocardial infarction (MI) — 26 (0,7%), cardiovascular surgery (CVS) — 6 (0,2%). Totally 235 hospitalizations for CVD registered. The risk of death, MI development and S had been increasing by 5-9% every year of patient age, and CVD hospitalization — decreased by 2%. Combined death risk and cardiovascular death risk were significantly higher (1,3-6,4 times) with anamnesis of MI, S, diabetes mellitus (DM), chronic obstructive lung disease (COPD), CHF of 3-4 functional class (FC), in males and with blood pressure (BP) 90 bpm, glomerular filtration rate (GFR) 180/110 mmHg, HR >90/min. Risk of all-cause death was lower in those who received p-adrenoblockers, angiotensin-converting enzyme inhibitors (iACE) and angiotensin receptor blockers (ARB) 1,4-1,5 times, death from cardiovascular causes — with iACE and ARB — 2 times lower. Patients on p-blockers had 1,8 times lower risk of MI. Conclusion. Prospective follow-up of cardiovascular patients under the frame of RECVASA registry showed significant negative influence on prognosis the following: age, male gender, anamnesis of MI and S, DM, COPD, CHF (3-4 FC), angina (3-4 FC), permanent AF, BP 180/110 mmHg, GFR 90/min, combination of AH, CHD, CHF and AH, CHD, CHF, AF. Positive influence on prognosis with CVD had treatment with p-adrenoblockers, iACE, ARB.

Aim. To study the structure of concomitant cardiovascular and comobid pathology, risk factors in patients with arterial hypertension (AH), coronary heart disease (CHD), with congestive heart failure (CHF) and atrial fibrillation (AF), and to evaluate the quality of diagnostics and treatment in the conditions of real outpatient-polyclinic practice by the Registry in Ryazanskaya region – a RF region with high level of cardiovascular mortality.Material and methods. Into the outpatient-polyclinic registry RECVAZA (Registry of cardiovascular diseases) totally 3690 patients included with AH, CHD, with CHF, AF and their comorbidity, who admitted physicians’ offices in 3 outpatient institutions in Ryazan city: 1047 (28%) males and 2643 (72%) females, mean age 66,1±12,9 y.o.Results. The AHG diagnosis was mentioned in 3648 (98,9%) patients: CHD – in 2548 (69,1%), CHF – 2726 (73,9%), AF – 530 (14,4%). In 79,5% cases there was comorbidity. In general each one patient had 2,6 diagnoses of 4 analyzed. Myocardial infarction and brain stroke were in 11,4% and 9,5% patients’ anamnesis; diabetes – in 19,1%. The level of investigation of patients did not match the expected level with cardiologic pathology. There was non-sufficient amount of investigations and drugs prescribed, especially ACE inhibitors and angiotensine receptor blockers in CHF patients, statins in CHD, beta-blockers in patients with myocardial infarction, anticoagulants in AF, though they had indications. At the moment of Registry, a discount rate of drug price had 16,7% patinets vs. 33,1% in previous years (p

The sequencing of first human genome followed by rapid development of technologies, that led to significant lowering of costs for genetic analyze and its fast performing, made possible a broad invention of genetic diagnostics methods into clinical practice. Contemporary methods of molecular genetics make possible to research on inherited factors on chromosome level with molecular cytogenetics methods, and on the level of local mutations with the use or polymeraze chain reaction, microchips and sequencing. Temps of the next generation sequencing methods provide the opportunity to predict soon inclusion in practice of the personalized medical analysis of large genetic data massive, that can be used for the disease outcome prediction, estimation of its course, and for the prescription and correction of pharmacotherapy. In this review, different (including novel) approaches to genetic diagnostics are explored for the rare as common diseases, their benefits and restrictions.

Assessment of lipid-lowering effect of rosuvastatin is presented, as well as the main results of the study of rosuvastatin therapy efficacy , in comparison with other statins, received in controlled clinical trials of the GALAXY program: COMETS, LUNAR, MERCURY-I, SOLAR, STELLAR.

The further development of preventive medicine in the 21st century may be impossible without the assessment of individual patients’ genetic data. At present, genetic methods are the gold standard in the diagnostics of monogenic diseases. Recently, genetic factors linked to complex (multifactorial) diseases, such as coronary heart disease and arterial hypertension, have been actively explored. This review focuses on the possible identification of new genetic factors of complex disease heritability, using the exome sequencing approach.

Familial hypercholesterolemia (FHCH) is characterised by early atherosclerosis development and its fast progression. The prevalence of FHCH inRussiahas been increasing, therefore, it is important to evaluate the potential of various methods for atherosclerosis diagnostics. Arterial ultrasound is an informative, accessible, and safe method for evaluating atherosclerotic vascular changes. The modern ultrasound methods allow describing vascular wall status in detail, including qualitative and quantitative characteristics of its structure and function. At the same time, most ultrasound characteristics of arterial wall are used in research settings or are under development, and not implemented into clinical practice. The most promising parameters, applicable for clinical use in FHCH patients, simultaneously describe atherosclerosis severity and its localization, such as total plaque height, ankle-brachial index, and plaque number.

Aim. To study the links between four polymorphisms of three antioxidant enzymes (catalase, paraoxonase, endothelial NO synthase) and restenosis risk after coronary artery stenting (CAS).Material and methods. The study included male patients with coronary heart disease (CHD), stable angina and angiographically verified stenosis of one or two main CA ≥70%, after intracoronary CAS with non-eluting stents and control coronary angiography 6 months later. Angiographical stenosis was determined as local reduction in CA diameter ≥50%. In all participants, -262 C/T polymorphism of CAT gene, L55M and Q192R polymorphisms of PON gene, and E298D polymorphism of eNOS gene were identified.Results. The study included 101 patients, and restenosis was diagnosed in 44%. E298D polymorphism of eNOS gene was associated with stent restenosis. In D allele carriers, restenosis risk was higher (p=0,008). The combination of LM/QQ genotypes for L55M and Q192R polymorphisms of PON gene was twice as prevalent in restenosis group: 41% vs. 21% (p=0,044).Conclusion. Genotyping on E298D polymorphism of eNOS gene and L55M and Q192R polymorphisms of PON gene could be used for post-CAS restenosis risk stratification in Russian patients.

Aim. To identify character and prevalence of apolipoprotein (apo) B-100 gene mutation in patients with clinical diagnosis of heterozygote familial hypercholesterolemia (FH); to describe its phenotypical features in mutation carriers. Material and methods. In 111 patients with clinical diagnosis of heterozygote FH, screening for exon 26 apo B-100 gene mutations was performed. For DNA analysis, allele-specific PCR, restriction analysis, analysis of DNA single-strand conformation polymorphism (SSCP), and sequestering of DNA fragments with anomaly electrophoretic activity were used. Results. In patients with clinics of heterozygote FH, 4,5% had apo B-100 gene mutation. R3500Q mutation was the only apo B-100 gene structure anomaly observed in these individuals. Compared to patients with low-density lipoprotein (LDL) receptor mutation, subjects with apo B-100 defect had less manifested HCH. Conclusion. R3500Q mutation of apo B-100 gene, together with LDL receptor mutations, partially explain high CH levels in Russian patients. Other mutations of this protein’s exon 26 could be very rare.

Aim. To study clinical course and severe complication development in patients with severe hypertriglyceridemia (HTG), >10 mmol/l. Material and methods. The study included 75 patients aged 21-68 years (mean age 49±11,05 years), examined at the Cardiology Complex in 1982-2006, with verified fasting HTG >10 mmol/l. Results. Coronary heart disease (CHD) was observed in 45,2% of the participants (50% males, 37% females), arterial hypertension (AH) – in 68% (60,4% and 81,4%), Type 2 diabetes mellitus – in 42,6% (44,4% and 41,7%), pancreatitis – in 34,9% (33,3% and 37,5%, respectively). Conclusion. In patients with severe HTG, high rates of CHD, AH, metabolic syndrome and pancreatitis were observed. Therefore, to prevent severe complications in such patients, detailed examination and adequate TH and cholesterol level control are necessary.

Coronary restenosis remains the main problem for effectiveness of percutaneous transluminal coronary angioplasty (PCA) and coronary stenting (CS). The aim of this review is to analyze pathogenetic mechanisms of coronary restenosis after PCA and CS, as well as various polymorphisms of relevant candidate genes as potential genetic markers of post‑PCA and post‑CS restenosis. Both pathophysiological mechanisms and genetic basis are different for stent restenosis and post‑PCA, stent‑free restenosis. There are genes, which could be used as genetic markers of stent restenosis risk. For PCA restenosis risk, there are genes, also used as genetic markers. Genetic testing before percutaneous coronary interventions could identify patients with high restenosis risk, that, combined with new pharmaceutical approaches, will decrease coronary restenosis rates after PCA and CS.

Aim. To assess coronary heart disease (CHD) and its risk factors (RF) prevalence, as well as their interaction in patients with heterozygotic form of familial hypercholesterolemia (FHCH). Material and methods. The analysis included 200 patients aged 24 years and above, with clinical diagnosis of FHCH. Cardiovascular status, RF type and prevalence were studied in patients with and without CHD. Multivariance analysis was performed to determine the link between RF and CHD development. Results. CHD prevalence in non-treated FHCH was as high as 61,5%. CHD rates increased with age, and were greater in males. CHD patients were older and had more adverse RF profile. Myocardial infarction was registered in 31% of the patients: for males - 18,1%, for females - 48,8% (р=0,00001). According to coronaroangiography data, coronary lesion number was similar in both genders, but in males occlusion severity was greater. In arterial hypertension (AH) multivariance analysis, CHD was the most important RF in FHCH patients. High blood pressure, combined with MTHFR CC genotype, increased CHD risk by 6,3 times, and AH-free combination of VII coagulation factor QQ genotype with GpIIIa CC genotype increased CHD risk by 8 times. Without treatment, male and female survival was substantially low in families with FHCH, especially for males. Conclusion. CHD is a typical feature of non-treated FHCH, developing earlier in males. In FHCH patients, CHD predictors include not only traditional RF, but also their combinations with genetic protein variations, not related to lipid metabolism.

The review is devoted to modern views on hypertriglyceridemia (HTG) etiology and pathogenesis, and its casual role in some disease development. Data on normal TG metabolism, main causes of HTG, its clinical role and diagnostics are discussed. Even though HTG plays an important role in atherosclerosis, pancreatitis, Alzheimer disease, pre-eclampsia development, it is still inadequately described, from clinicians’ point of view.

Familial hypercholesterolemia (FHCH) is a hereditary autosomal dominant disease, characterised by lipid metabolism disturbances and high plasma levels of low-density lipoprotein cholesterol (LDL–CH). Aim. To compare lipid metabolism parameters in patients with various genetic variants of FHCH, and to assess the sensitivity and specificity of biochemical markers for FHCH diagnostics in the relatives of probands. Material and methods. Lipid metabolism parameters were compared in 123 non-treated patients with genetically confirmed FHCH diagnosis (98 and 5 with LDLR or APOB mutations, respectively) and their healthy relatives without LDLR or APOB mutations. Results. Similarly to European populations, the Russian population was characterised by higher levels of total CH (TCH) and LDL–CH among patients with LDLR mutations, compared to patients with APOB mutations. In the FHCH diagnostics among relatives, biochemical markers demonstrated high sensitivity (93%) and specificity (82%). Despite lower LDL–CH levels, these diagnostic criteria were also effective in patients with APOB mutations. Conclusion. In the Russian population, biochemical criteria could be recommended for FHCH diagnostics in the relatives of FHCH probands.