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Cross-Sectional Study to Estimate the Prevalence of Familial Hypercholesterolemia in Selected Regions of the Russian Federation: Relevance, Design of the Study and Initial Characteristics of the Participants

https://doi.org/10.20996/1819-6446-2020-02-17

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Abstract

Aim. To study the prevalence of familial hypercholesterolemia (FH), the characteristics of the clinical features and treatment of the disease in selected regions of the Russian Federation, this article describes the design and initial characteristics of patients included in the study.

Material and methods. The study participants were selected among those included in the study “Epidemiology of cardiovascular risk factors and diseases in the regions of the Russian Federation” (ESSE-RF) in different regions of the Russian Federation. The study included individuals with lowdensity lipoprotein cholesterol (LDL-C) levels >4.9 mmol/l or LDL-C levels >1.8 mmol/l, but ≤4.9 mmol/l during statin therapy, according to the data obtained in the ESSE-RF study. These persons are invited for examination and questioning by experts in the field of FH diagnostics. On the basis of the survey data and provided medical documentation, the following information is collected: age, sex, smoking status, presence of hypertension, history of coronary artery disease, stroke, atherosclerosis of cerebral and peripheral arteries, LDL-C level, type, volume and duration of lipid-lowering therapy throughout life, presence and dates of secondary causes of hyperlipidemia, information about the family history of development of early cardiovascular diseases and atherosclerotic diseases, increased levels of LDL-C in relatives of the 1st and 2nd degree of kinship. All patients are examined for the presence of tendon xanthomas (Achilles, metacarpal, elbow, knee tendons) and Corneal arcus. During the visit, blood is taken for subsequent biobanking, measurement of current blood lipid levels, elimination of secondary forms of hypercholesterolemia (for subsequent determination of liver enzymes, thyroid stimulating hormone) and genetic testing. The diagnosis of FH is based on Dutch Lipid Clinical Network Criteria (DLCN). Besides, all participants in the study are tested for compliance with the diagnosis of FH according to Simon Broome criteria. All patients with a definite or probable diagnosis of FH according to DLCN or Simon Broome criteria are subjected to ultrasound examination of carotid, femoral arteries and heart and molecular genetic testing for LDLR, APOB and PCSK9 gene variants.

Results. Out of 16 360 participants of the ESSE-RF study in 10 regions, 1787 people (10,9%) met the criteria for inclusion in this study. Among them, men accounted for 35.4%, of which 1150 (7%) patients had a LDL-C level >4.9 mmol/l and 637 (3,9%) had a LDL-C level from 1,81 mmol/l to 4.9 mmol/l during lipid-lowering therapy. When compared to the original cohorts of participants from the 10 regions as compared to 3 previously surveyed regions and selected sub-groups within these cohorts we observed significant differences in several parameters such as age, total cholesterol level, triglycerides, LDL-C, the frequency of cardiovascular diseases, that may indicate regional differences in FH prevalence.

Conclusion. The analysis of clinical data of the participants of the ESSE-RF study shows that more than 10% of individuals require an additional examination to verify the FH diagnosis, and regional differences in the FH prevalence are possible.

About the Authors

A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Alexey N. Meshkov – MD, PhD, Head of the Laboratory of Molecular Genetics

Petroverigsky per. 10, Moscow, 101990



A. I. Ershova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Alexandra I. Ershova – MD, PhD, Head of Laboratory of Clinomics

Petroverigsky per. 10, Moscow, 101990



S. A. Shalnova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Svetlana A. Shalnova – MD, PhD, Professor, Head of the Department of Epidemiology of Chronic Non-Communicable Diseases

Petroverigsky per. 10, Moscow, 101990



A. S. Alieva
Almazov National Medical Research Center
Russian Federation

Asiat S. Alieva – MD, PhD, Head of Centre of Atherosclerosis and Lipid Disorders

Akkuratova ul. 2, St. Petersburg, 197341



S. S. Bazhan
Federal Research Center, Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Institute of Internal and Preventive Medicine
Russian Federation

Stepan S. Bazhan – MD, PhD, Cardiologist

B. Bogatkova ul. 175/1, Novosibirsk, 630089



O. L. Barbarash
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Olga L. Barbarash – MD, PhD, Professor, Corresponding Member of Russian Academy of Sciences, Director

Sosnoviy bulv. 6, Kemerovo, 650002



D. Y. Bogdanov
Clinical Hospital №1
Russian Federation

Dmitry Y. Bogdanov – MD, Сardiologist

Sadovaya ul. 22, Vladivostok, 690078

 



I. A. Viktorova
Omsk State Medical University
Russian Federation

Inna A. Viktorova – MD, PhD, Professor, Head of Chair of Internal Diseases and Policlinic Therapy

Lenina ul. 12, Omsk, 644099



Yu. I. Grinshtein
Krasnoyarsk State Medical University named after Prof. Voino-Yasenetsky
Russian Federation

Yurii I. Grinshtein – MD, PhD, Professor, Head of Chair of Internal Medicine

Partizana Zheleznyaka ul. 1, Krasnoyarsk, 660022



D. V. Duplyakov
Regional Cardiology Center
Russian Federation

Dmitry V. Duplyakov – MD, PhD, Professor, Deputy Director

Aerodromnaja ul. 43, Samara, 443070



O. N. Kalachikova
Vologda Research Center of the Russian Academy of Sciences
Russian Federation

Olga N. Kalachikova – MD, PhD (in Economic), Deputy Director

Gorkogo ul. 56A, Vologda, 160014



A. V. Kontsevaya
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Anna V. Kontsevaya – MD, PhD, Deputy Director

Petroverigsky per. 10, Moscow, 101990



R. A. Libis
Orenburg State Medical University
Russian Federation

Roman A. Libis – MD, PhD, Head of Chair of Hospital Therapy

Sovetskaya ul. 6, Orenburg, 460000



I. V. Medvedeva
Tyumen State Medical University
Russian Federation

Irina V. Medvedeva – MD, PhD, Professor, Academician of Russian Academy of Sciences, Rector

Odesskaya ul. 54, Tyumen, 625023



V. A. Nevzorova
Pacific State Medical University
Russian Federation

Vera A. Nevzorova – MD, PhD, Professor, Director of Institute of Therapy and Diagnostic Tool

Ostryakova pr. 2, Vladivostok, 690002



N. N. Prishchepa
City Polyclinic №1
Russian Federation

Natalia N. Prishchepa – MD, PhD, Head of the Center for Medical Prevention

Lenina pr. 6, Petrozavodsk, 185350



O. P. Rotar
Almazov National Medical Research Center
Russian Federation

Oksana P. Rotar – MD, PhD, Senior Researcher, Laboratory of Epidemiology of Non-Communicable Diseases

Akkuratova ul. 2, St. Petersburg, 197341



V. N. Serebryakova
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation

Victoria N. Serebryakova – MD, PhD, Head of Laboratory of Registries of Cardiovascular Diseases, High-Technology Interventions and Telemedicine

Kievskaya ul. 111A, Tomsk, 634012



I. A. Trubacheva
Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Russian Federation

Irina A. Trubacheva – MD, PhD, Head of Department of Population Cardiology

Kievskaya ul. 111A, Tomsk, 634012



T. M. Chernykh
Voronezh State Medical University named after N.N. Burdenko
Russian Federation

Tatyana M. Chernykh – MD, PhD, Professor, Head of Chair of Hospital Therapy and Endocrinology

Studencheskaya ul. 10, Voronezh, 394036



E. A. Shutemova
Ivanovo State Medical Academy
Russian Federation

Elena A. Shutemova – MD, PhD, Professor, Chair of Therapy and General Practice

Sheremetevskyi pr. 8, Ivanovo, 153012



O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Oxana M. Drapkina – MD, PhD, Professor, Corresponding Member of Russian Academy of Sciences, Director of National Medical Research Center for Therapy and Preventive Medicine

Petroverigsky per. 10, Moscow, 101990



S. A. Boytsov
National Medical Research Center of the Cardiology
Russian Federation

Sergey A. Boytsov – MD, PhD, Professor, Academician of Russian Academy of Sciences, Director of National Medical Research Center of Cardiology   

Tretya Cherepkovskaya 15A, Moscow, 121552



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For citation:


Meshkov A.N., Ershova A.I., Shalnova S.A., Alieva A.S., Bazhan S.S., Barbarash O.L., Bogdanov D.Y., Viktorova I.A., Grinshtein Y.I., Duplyakov D.V., Kalachikova O.N., Kontsevaya A.V., Libis R.A., Medvedeva I.V., Nevzorova V.A., Prishchepa N.N., Rotar O.P., Serebryakova V.N., Trubacheva I.A., Chernykh T.M., Shutemova E.A., Drapkina O.M., Boytsov S.A. Cross-Sectional Study to Estimate the Prevalence of Familial Hypercholesterolemia in Selected Regions of the Russian Federation: Relevance, Design of the Study and Initial Characteristics of the Participants. Rational Pharmacotherapy in Cardiology. 2020;16(1):24-32. (In Russ.) https://doi.org/10.20996/1819-6446-2020-02-17

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ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)