Consensus Statement of the Russian National Atherosclerosis Society (RNAS) Familial hypercholesterolemia in Russia: outstanding issues in diagnosis and management Presidium of the Expert Council

Abstract

Lipid metabolism disorders play a pivotal role in increased mortality and morbidity from atherosclerotic cardiovascular disease throughout the world with familial hypercholesterolemia (FH) being the most common cause of premature death from coronary heart disease. In the Russian Federation, the estimated number of patients with heterozygous FH (heFH) is ~ 287 000, whereas it is assumed that there are about 150–300 patients with homozygous form (hoFH). However, the true prevalence of this disease is unknown in most countries, thus these patients with genetically elevated levels of low-density lipoprotein cholesterol are left without proper and timely management. While hoFH fully meets the criteria for a rare disease, in contrast heFH occurs 2 times more often than other hereditary diseases. Data analysis from British registry has shown that FH patients aged 20–39 have a 100-fold increase in risk of death from coronary events and a 10-fold increase in total mortality compared with the general population. HoFH patients without treatment die before the age of 20 years from complications of atherosclerosis. This document summarizes the opinion of experts on the matter of optimizing the detection and treatment algorithms of FH patients. The interim analysis of the Russian FH Register is presented. The consensus provides a rationale for the creation of the network of lipid centers in Russia and some other steps that need to be done for the improvement of the diagnosis and the treatment of FH.