Results of the Russian research program on the diagnosis and treatment of patients with familial hypercholesterolemia. High prevalence, low awareness, poor adherence

Abstract

Goal. The true prevalence of familial hypercholesterolemia (FH) in the Russian Federation is unknown. The purpose of this study was to assess the possibility of timely detection of this disease and the effectiveness of therapeutic and diagnostic measures in persons with severe hypercholesterolemia.
Materials and methods. Between December 2013 and December 2016, 1027 patients with a total cholesterol level (OC) ≥7.5 mmol/l and/or a low-density lipoprotein cholesterol (LDL) cholesterol ≥  4.9 mmol/l were included in the leading and regional medical centers, which formed the basis for the organization of the work of the national multicenter register on the FH (Register of FH). Information on patients was recorded in the electronic medical system and contained data on the evaluation of the clinical status and risk factors of atherosclerosis, blood lipid parameters, echocardiography and duplex scanning of brachiocephalic arteries, and data on treatment conducted for the control of blood lipids.
Results. Mean blood lipid levels were: OC 9.2±2.0 mmol/l, LDL cholesterol 6.3±1.7 mmol/l, lipoprotein (a) Lp (a) 37±44 mg/dl. Elevated levels of Lp (a) (more than 30 mg/dl) were detected in 38% of individuals. In the presence of a pronounced primary hypercholesterolemia, the probability of detection of the FH reaches 20%. For an accurate diagnosis it is sufficient to apply a simple examination complex based on the modified criteria of the Dutch lipid clinics. The frequency of prescribing lipid-lowering therapy does not exceed 25%, reaching the target level of LDL cholesterol is extremely low. The true prevalence within the project is impossible to assess, because many centers included patients with a known or probable diagnosis of the FH. With a view to timely diagnosis and treatment, increasing the doctors’ awareness of the FH, the National Society for the Study of Atherosclerosis has developed short recommendations on the diagnosis and treatment of FH and methodological recommendations on the organization of medical care for patients with hereditary atherogenic impairments of lipid metabolism.
Conclusion. Family hypercholesterolemia in Russia is distinguished by untimely diagnosis at high prevalence, low awareness of doctors and patients about the disease, poor adherence to lipid-lowering therapy with an extremely rare  achievement of the target level of LDL cholesterol.