Ischemic Heart Disease and Heterozygous Familial Hypercholesterolemia: the Problem of Diagnosis and Treatment (Clinical Case)

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.