Prognostic value of diagnostic criteria for familial hypercholesterolemia in men and women with dyslipidemia

Author:

Kim Z. F.1ORCID,Galyavich A. S.2ORCID,Sadykova D. I.3ORCID,Nurieva L. M.1ORCID

Affiliation:

1. Kazan State Medical University; M.N. Sadykov City Clinical Hospital № 7

2. Kazan State Medical University

3. Kazan State Medical University; Children's Republican Clinical Hospital

Abstract

Aim. To analyze the prognostic value of the Dutch Lipid Clinic Network (DLCN) and Simon Broome Register (SBR) screening criteria for familial hypercholesterolemia (FH) in men and women with dyslipidemia.Material and methods. The study included 1233 patients with dyslipidemia.Biomaterial samples from 421 patients were studied using Next Generation Sequencing (NGS) to identify FH-associated genes. Statistical analysis was carried out using the StatTech v program. 3.1.6 (OOO Stattekh, Russia).Results. The most significant factors for predicting the FH in men are the level of low-density lipoprotein cholesterol (LDL-C) (1,77 times), positive family history for coronary artery disease (CAD) (6,26 times), multivessel coronary artery disease (4,05 times); in women before menopause — LDL-C (1,77 times per 1 mmol/l) and/or family history of coronary artery disease (3,31 times), in menopausal women — total cholesterol level (1,79 times per 1 mmol/l), coronary artery disease (6,52 times) and/or family history of stroke (6,04 times), xanthomas (4,24 times). Acute myocardial infarction and/or coronary stenting, arcus senilis, extracranial artery atherosclerosis did not prove to be prognostically significant for FH diagnosis.Conclusion. Diagnostic criteria for potential FH vary among patient populations. Its diagnostic significance depends on sex, and in women, reproductive status.

Publisher

Silicea - Poligraf, LLC

Subject

Cardiology and Cardiovascular Medicine

Reference16 articles.

1. Namitokov AM, Zafiraki VK, Fetisova VI, Kosmacheva ED. Familial hypercholesterolemia in the Krasnodar region: problems and possible solutions. Innovative medicine of Kuban. 2019;(1):57-63. (In Russ.)

2. Khera AV, Won HH, Peloso GM, et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J. Am. Coll. Cardiol. 2016;67:2578-89.

3. Santos RD. Phenotype vs. genotype in severe familial hypercholesterolemia: what matters most for the clinician? Curr. Opin. Lipidol. 2017;28:130-5.

4. Hripunova AA, Boeva OI, Dzhanibekova AR, et al. Epidemiology and diagnostic features of familial hypercholesterolemia in the Russian population. Terapiya. 2020;6(5):147-56. (In Russ.)

5. Safarova MS, Sergienko IV, Ezhov MV, et al. Russian research program for timely diagnosis and treatment of patients with familial hypercholesterolemia: justification and design of the Russian register of familial hypercholesterolemia (ROSHHS). Ateroskleroz i dislipidemii. 2014;(3):7-15. (In Russ.)

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