No abstract

Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood. The aim of this study is to present data on the spectrum of LDLR, APOB, and PCSK9 gene variants in a cohort of 595 index Russian patients with FH, as well as an additional systematic analysis of the literature for the period of 1995–2020 on LDLR, APOB and PCSK9 gene variants described in Russian patients with FH. We used targeted and whole genome sequencing to search for variants. Accordingly, when combining our novel data and the data of a systematic literature review, we described 224 variants: 187 variants in LDLR, 14 variants in APOB, and 23 variants in PCSK9. A significant proportion of variants, 81 of 224 (36.1%), were not described earlier in FH patients in other populations and may be specific for Russia. Thus, this study significantly supplements knowledge about the spectrum of variants causing FH in Russia and may contribute to a wider implementation of genetic diagnostics in FH patients in Russia.

Кардиоваскулярная терапия и профилактика, 2012; 11(4) 70 Клинические исследования и регистрыСохраняющиеся нарушения показателей липидного спектра у пациентов с дислипидемией, получающих статины, в реальной клинической практике в Российской Федерации (российская часть исследования DYSIS)

No abstract

Subclinical atherosclerosis is an initial, latent stage of chronic progressing arterial inflammation. Destabilisation of asymptomatic, hemodynamically non-significant atherosclerotic plaques (AP) could lead to myocardial infarction, stroke, or sudden death. Since the assessment of AP stability is problematic in real-world clinical settings, the risk stratification should, at least, account for the presence of subclinical atherosclerosis. In 600 ambulatory patients from the Moscow City Western Administrative Okrug who had low and moderate SCORE-assessed cardiovascular risk levels, the prevalence of AP, based on the duplex carotid ultrasound results, was 59% (n=358). Presently, no standard guidelines exist on cardiovascular risk stratification which would include the assessment of subclinical atherosclerosis, despite the importance of the latter as a prognostic factor. Large clinical studies on prognosis in patients with subclinical atherosclerosis will clarify the role of this parameter as an independent cardiovascular risk factor and facilitate the development of respective clinical recommendations.