Familial hypercholesterolemia: etiopatho ge - nesis, diagnosis, treatment and state of the problem in Ukraine

Abstract

Familial hypercholesterolemia (FH) is one of the most common, inherited autosomal dominant diseases. Most often, FH is caused by dominant mutation of the gene, responsible for the synthesis of low density lipoprotein (LDL) membrane receptors that remove LDL from the blood plasma. As a result, individuals with a mutation of this gene from birth have a significantly increased level of cholesterol LDL in the blood. FH mediates the accelerated development of cardiovascular disease of atherosclerotic genesis, especially coronary heart disease (CHD), so the level of cardiovascular mortality in the population of such patients is extremely high. The article focuses on the fact that the main threat of these lipid disorders is the early and rapid initiation of atherosclerotic lesions of coronary vessels: in patients with heterozygous FH with a total cholesterol level of 8–15 mmol/l, CHD usually manifests up to 55 and 60 years, whereas in homozygous patients with a total cholesterol level of 12–30 mmol/l, CHD manifests at the start of their life and if left untreated, death occurs by the age of 20 years. The major genetic disorders in familial hypercholesterolemia and the frequency of their detection in the population are characterized. There are definitions of clinical screening options for FH: targeted, opportunistic, universal, cascadic. A comprehensive view of the diagnosis of FH according to the Dutch Lipid Clinic Network (DLCN) is provided. The basic principles of non-medication and three-step medication treatment of FH are presented. The article presents a clinical case of the homozygous FH taking into account the peculiarities of the disease course, the results of laboratory and instrumental studies and step-by-step treatment in the department of dyslipidemia of M.D. Strazhesko Institute of Cardiology of NAMS of Ukraine. The epidemiological data of the Ukrainian population survey on the possible prevalence of FH in Ukraine are presented. The preliminary analysis of the Ukrainian registry of patients with FH as a national fragment of the international ScreenProFH Registry and the European Register EAS-FHSC is provided.