Organization of lipid centers operation in the Russian Federation — new opportunities

Ezhov, M.; Барбараш, О. Л.; Воевода, М. И.; Гуревич, В. С.; Везикова, Н. Н.; Садыкова, Д. И.; Сергиенко, И. В.; Кашталап, В. В.; Мешков, А. Н.; Дупляков, Д. В.; Соколов, А. А.; Бойцов, С. А.

doi:10.15829/1560-4071-2021-4489

Cited by 8 publications

(11 citation statements)

References 20 publications

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“…Биоинформатический анализ данных проводился в лаборатории Health in Code, Испания. Генетические варианты описаны согласно рекомендациям the Human Genome Variation Society 1 , при интерпретации результатов использовали данные базы ClinVar 2 .…”

Section: материал и методыunclassified

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Clinical characteristics of carriers of pathogenic LDLR and АРОВ mutations

Kim,

Galyavich,

Sadykova

et al. 2023

Russ J Cardiol

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Aim. To analyze the clinical characteristics of carriers of pathogenic LDLR and АРОВ mutations, as well as the prognostic value of Dutch Lipid Clinic Network Score (DLCNS) as applied to carriage of АРОВ or LDLR.Material and methods. The study included 1233 outpatient lipid clinic patients. Biomaterial samples from 421 patients with the hereditary dyslipidemia were studied using Next Generation Sequencing (NGS) to identify carriage of familial hypercholesterolemia (FH)-associated genes (LDLR, АРОВ, PCSK9, LDLRAP1), as well as polymorphism of the APOE gene. Statistical processing was performed using descriptive statistics methods.Results. According to the data obtained, the most significant predictors of pathogenic LDLR mutations are the levels of total cholesterol, low-density lipoprotein cholesterol (LDL-C), family history of coronary artery disease (CAD), and previous coronary artery bypass grafting. The level of LDL-C, family history of cerebrovascular accident or CAD, and arcus senilis were more significant for verifying the carriage of pathogenic АРОВ mutations. Using screening potential carriers of FH using the DLCN or Simon-Broome diagnostic criteria, the probability of FH may be underestimated due to the discrepancy between the scale criteria and the prognostic contribution of clinical or anamnestic data. These scales do not take into account the estrogen status of potential female carriers of FH.Conclusion. Thus, diagnostic criteria for identifying potential FH vary among different patient groups. Their diagnostic significance depends on sex, and in women, on reproductive status. Only part of DLCN and Simon-Broome criteria can be applied to assess the FH likelihood, and to a greater extent for carriage of LDLR, but not АРОВ.

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Section: материал и методыunclassified

“…2024;29(1):5686. doi:10.15829/1560-4071-2024-5686. EDN ATCQDYClinical characteristics of carriers of pathogenic LDLR and АРОВ mutationsKim Z. F 1,2 ,. Galyavich A. S. 1 , Sadykova D. I 1,3 ,.…”

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Clinical characteristics of carriers of pathogenic LDLR and АРОВ mutations

Kim,

Galyavich,

Sadykova

et al. 2023

Russ J Cardiol

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“…Ингибиторы ГМГ-КоА редуктазы (статины) прочно вошли в повседневную клиническую практику и являются основой для эффективной первичной и вторичной профилактики атеросклероза и его осложнений [1][2][3][4][5]. За последние 40 с лишним лет применения этого класса препаратов накоплен большой опыт по эффективности статинотерапии [6][7][8][9], возможности стабилизации/регрессии атеросклероза [10][11][12][13][14], а также широкого использования статинов в комбинированной терапии [15][16][17][18][19][20].…”

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Modern algorithms for statin therapy

Susekov

2023

Russ J Cardiol

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HMG-CoA reductase inhibitors (statins) are a key class of drugs for the treatment and prevention of atherosclerosis and its complications. This class of drugs has become firmly established in Russian and international guidelines with a high level of evidence. However, the use of these drugs in practice is not yet optimal. A significant proportion of patients at very high cardiovascular risk, taking initial doses of statins, do not achieve target levels of low-density lipoprotein cholesterol. The article is devoted to the analysis of international and Russian guidelines for statin monotherapy optimization, including their prescription in primary prevention using cardiovascular risk reclassification, coronary calcium score, carotid Doppler ultrasound and lipoprotein(a) levels.

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“…Известно, что наиболее тяжелой формой нарушения липидного обмена с наиболее агрессивным течением атеросклероза является семейная гиперхолестеринемия (СГХ). Распространенность гетерозиготной формы СГХ в европейской популяции составляет 1:250-1:500 человек [1], в России -1:173 [2]. До 80% больных СГХ не знают о своем заболевании [3].…”

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“…По предварительным подсчетам, количество пациентов с СГХ в Российской Федерации может достигать >840 тыс. человек [2], и подавляющее большинство из них на данный момент не выявлено.…”

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Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia

et al. 2023

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Aim. To assess the detection rate of familial hypercholesterolemia among outpatients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows: 1233 people aged 18-84, including 777 women (63,02%) and 456 men (36,98%). Biomaterial samples from 421 patients with the phenotype of definite, possible or probable familial hypercholesterolemia were studied by massive parallel sequencing using a panel of 5 genes associated with familial hypercholesterolemia (LDLR, LDLRAP1, APOB, APOE, PCSK9). For statistical processing, descriptive statistics methods were used.Results. Working-age patients apply 1,56 times more often than patients of the older age group (60,91% vs 39,09%), and the vast majority of them were referred by a primary care physician based on data from periodic health examinations. The mean level of total cholesterol and low-density lipoprotein cholesterol in the lipidology center was 7,58 and 4,8, respectively. Out of 421 samples, 127 patients (10,3% of the total number of patients and 30,16% of the number of biosamples) had previously described variants of the LDLR, APOB and/or PCSK9 genes associated with familial hypercholesterolemia.Conclusion. The detection rate of definite familial hypercholesterolemia ranges from 5,51 to 8,43% of outpatients visiting a lipidologist, while the proportion of verified carriers of gene mutations related to familial hypercholesterolemia is 10,3%. The diagnosis should not be rejected with a formally low probability according to the S. Broom and DLCN criteria, as well as when identifying data suggestive of secondary lipid metabolism disorders.

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Organization of lipid centers operation in the Russian Federation — new opportunities

Cited by 8 publications

References 20 publications

Clinical characteristics of carriers of pathogenic LDLR and АРОВ mutations

Clinical characteristics of carriers of pathogenic LDLR and АРОВ mutations

Modern algorithms for statin therapy

Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia

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