Ischemic Heart Disease and Heterozygous Familial Hypercholesterolemia: the Problem of Diagnosis and Treatment (Clinical Case)
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Abstract
Familial hypercholesterolemia (FH) is a genetic disorder, characterized by high blood cholesterol levels, particularly – very high low-density lipoprotein (LDL) levels, which leads to the development of cardiovascular disease at a young age.
Heterozygous FH is diagnosed in the general population in most countries in one of 500 people. Certain phenotypic manifestations of this disease have been identified, namely: tendon xanthomas, lipid arch of the cornea and xanthelasma. Patients with FH are prone to early development of atherosclerosis and clinically manifest forms of cardiovascular diseases, in particular ischemic heart disease.
A direct correlation has been established between morbidity, mortality from coronary heart disease and blood cholesterol level. It has also been proven that hypercholesterolemia is the main risk factor for the development of atherosclerosis and its complications. Early diagnosis and modern lipid-lowering therapy play an important role for patients with signs of hereditary lipid metabolism disorders. Patients with heterozygous FH are usually treated by statins, which act by inhibiting an enzyme in the liver. Statins are effective in lowering total cholesterol and LDL levels. Sometimes other drugs are additionally prescribed. The diagnosis of this pathology requires a genetic consultation.
All patients with FH require lifelong pharmacological therapy. The use of statins leads to a decrease in coronary mortality by 25–40%, and decrease in the risk of ischemic events – by 26–30%.
An observational study of a large British registry noted that mortality in patients with FH began to decline slightly from the early 90s of the XX century, when statins were started to use in treatment.
The article presents a clinical case of ischemic heart disease in heterozygous FH patent, considers diagnostic criteria and modern approaches to the management of patients with hereditary disorders of lipid metabolism.
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References
Zhdan VM, Kitura EM, Babanina M.Yu., Kitura OE, Volchenko GV, Tkachenko MV etc. Current issues of cardiology in the practice of family medicine. Second edition, supplement. And processing. Poltava: FOP Mironenko IG; 2017. 248 p.
Zhdan VM, Potyazhenko MM, Khaimenova GS, Sokolyuk NL The use of statins in comorbid pathology in the practice of family medicine. Family medicine. 2015;3(59):145-7.
Todurov BM, Malyshev PP, Susekov AV, Konovalov GA, Zharinov OI, Druzhina AN Familial dyslipidemia. Extracorporeal methods of treatment. Consensus of the expert group. Cardiac surgery and interventional cardiology. 2012;1:67-72.
Acarturk E.,Bozkurt A., Cayli M., Demir M. Mitral annular calcification and aoris valve calcification may help in predicting significant coronary artery disease. Angiology. 2003;54(5):561-7.
Baigent C., Mach F., Catapano A.L. et al. ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur. Heart J. 2019 Aug. 31. DOI:10.1093/eurheartj/ehz455
Goldberg A.C., Hopkins P.N., Toth P.P., Ballantyne C.M., Rader D.J., Robinson J.G. et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J. Clin. Lipidol. 2011;5(3Suppl.):1-8.
Hopkins PN, Toth HH, Ballantyne CM, Rader DJ. Familial Hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3 suppl): 9-17.
Patel R.S., Scopelliti E.M., Savelloni J. Therapeutic Management of Familial Hypercholesterolemia: Current and Emerging Drug Therapies. Pharmacotherapy. 2015;35(12):1189-203.
Smilde T.J., van Wissen S., Wollersheim H. et al. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet. 2001;357(9256):577-81.
Stein EA, Raal FJ. Polygenic familial hypercholesterolaemia: does it matter? Lancet. 2013 Apr 13;381(9874):1255-7.
