FAMILIAL DYSBETALIPOPROTEINEMIA (TYPE III HYPERLIPOPROTEINEMIA)
https://doi.org/10.38109/2225-1685-2019-1-42-52
Abstract
<strong>The aim of this work</strong> was to describe a series of cases of familial dysbetalipoproteinaemia (FD) - a rare recessive disorder of lipid metabolism. The study included 18 patients of both sexes, mean age was 42.4 years. Quantitative determination of total cholesterol (TC) and triglycerides (TG) was carried out by a unified enzymatic method, high density lipoprotein (HDL) and low-density lipoprotein (LDL) - by a direct homogeneous method. The APOE gene rs7412 variant was determined by real-time polymerase chain reaction (PCR) using adjacent samples and by melting reaction products after PCR. The frequency of FD according to DNA analysis among 367 patients with different types of hyperlipidemia was 4.9%. CHD was detected in 27.8% of patients. Different types of xanthomas were detected in 22.2% of patients. When comparing the initial lipid profile of patients with FD and those in the control group, significantly higher levels of TC, TG, state Budget-funded Institution National Medical Research center of cardiology of the Ministry of Health of the Russian Federation LDL-C and non-HDL-C were observed, while plasma HDL-C levels were significantly lower than in the control group. On lipid-lowering therapy (statin and/or fibrate), the average levels of TC, TG and non-HDL cholesterol decreased approximately 2 times from baseline (p<0.002), and LDL decreased 1.5 times (p<0.008). The goal level of non-HDL-C among patients with high cardiovascular risk (<2.6 mmol/l) during therapy was not achieved in anyone, and high risk (<3.4 mmol/l) was achieved only in 2 of 5 patients. The data obtained show that, despite the favorable changes in the lipid profile, many patients with FD on current therapy remain untreated; therefore, to increase the effectiveness of therapy, it is necessary to increase the dose of statin (in the absence of contraindications) and/or combine statins with fibrates.
About the Authors
P. P. Malyshev
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Senior researcher, MD, Department of Atherosclerosis Problems
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 67 89
A. V. Tyurina
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Clinical resident of the Department of Hypertension
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 72 61
T. A. Rozhkova
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Researcher, PhD (medicine), Laboratory of Clinical Lipidology
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 69 96
M. Y. Zubareva
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Junior researcher, PhD (medicine), Laboratory of Clinical Lipidology
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 69 96
V. A. Amelyushkina
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Laboratory physician, Laboratory of Clinical Lipid Metabolism Biochemistry
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 63 10
Y. A. Shuvalova
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Junior researcher, PhD (medicine), Department of Atherosclerosis Problems
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 63 48
D. V. Rebrikov
Federal State Budget-funded Educational Institution for Vocational Education Russian National Pirogov Research Medical University of the Ministry of Health of the Russian Federation;
Federal State Budget-funded Institution National Academician Kulakov Medical Research Center of Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Provost for scientific work, Doctor of Biological Sciences;
1 Ostrovityanova str., Moscow, 117997;
4 Akademika Oparina str., Moscow, 117997
Phone: (495) 434 12 83
A. I. Kaminny
Federal State Budget-funded Institution National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Senior researcher, MD, Department of Atherosclerosis Problems
15a, 3rd Cherepkovskaya Str., Moscow, 121552
Phone: (495) 414 63 48
References
1. Blum CB. Type III Hyperlipoproteinemia: Still Worth Considering?ProgCardiovasc Dis. 2016; 59(2): 119-124.
2. Rebrikov DV, TrofimovDIu. Real-time PCR: approaches to data analysis (a review). PriklBiokhimMikrobiol. 2006;42(5):520-528.
3. Rebrikov D.V., Samatov G.A., Trofimov D.Yu. Real-time PCR. – M: BINOM, 2009. – 215 p.
4. Koopal C, Retterstøl K, Sjouke B, Hovingh GK, Ros E, de Graaf J, Dullaart RP, Bertolini S, Visseren FL. Vascular risk factors, vascular disease, lipids and lipid targets in patients with familial dysbetalipoproteinemia: a European cross-sectional study. Atherosclerosis 2015;240(1):90-97.
5. Hopkins PN, Wu LL, Hunt SC, Brinton EA. Plasma triglycerides and type III hyperlipidemia are independently associated with premature familial coronary artery disease. J Am CollCardiol. 2005;45:1003-1012.
6. Henneman P, van der Sman-de Beer F, Moghaddam PH, Huijts P, Stalenhoef AF, Kastelein JJ, et al. The expression of type III hyperlipoproteinemia: involvement of lipolysis genes. Eur J Hum Genet. 2009; 17:620-628.
7. Morganroth J, Levy RI, Fredrickson DS. The biochemical, clinical, and genetic features of type III hyperlipoproteinemia. Ann Intern Med. 1975;82(2):158-174.
8. National Institute for Health and Care Excellence. Lipid modification: cardiovascularrisk assessment and the modification of blood lipids for the primary and secondary prevention of cardiovascular disease. London: National Institute for Health and Care Excellence, 2014.
9. Bennet AM, Di Angelantonio E, Ye Z, Wensley F, Dahlin A, Ahlbom A, Keavney B, Collins R, Wiman B, de Faire U, Danesh J. Association of apolipoprotein E genotypes with lipid levels and coronary risk.JAMA 2007;298(11):1300-1311.
10. 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias: The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS) Developed with the special contribution of the European Assocciation for Cardiovascular Prevention & Rehabilitation (EACPR). Authors/Task Force Members: Catapano AL, Graham I, De Backer G, Wiklund O, Chapman MJ, Drexel H, Hoes AW, Jennings CS, Landmesser U, Pedersen TR, Reiner Ž, Riccardi G, Taskinen MR, Tokgozoglu L, Verschuren WM, Vlachopoulos C, Wood DA, Zamorano JL. Atherosclerosis 2016;253:281-344.
Review
For citations:
Malyshev P.P., Tyurina A.V., Rozhkova T.A., Zubareva M.Y., Amelyushkina V.A., Shuvalova Y.A., Rebrikov D.V., Kaminny A.I. FAMILIAL DYSBETALIPOPROTEINEMIA (TYPE III HYPERLIPOPROTEINEMIA). Eurasian heart journal. 2019;(1):42-52. https://doi.org/10.38109/2225-1685-2019-1-42-52
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