Urte Gargalskaite

Establishing a national screening programme for familial hypercholesterolaemia in Lithuania

BACKGROUND AND AIMS Familial hypercholesterolaemia (FH) is a widely underdiagnosed genetic disorder characterized by severely elevated levels of serum cholesterol and associated with premature mortality. Screening programmes and registries have been established worldwide to find and monitor patients with FH. The aim of this paper was to describe the approaches currently applied to identify patients with possible FH in Lithuania. METHODS An electronic extraction tool was applied to the medical records of 92,373 subjects evaluated in primary care settings from 2009 to 2016, 1714 secondary prevention patients with early onset (<50 years) coronary heart disease (CHD) treated in tertiary care hospital from 2005 to 2016 and high-risk subjects in specialized cardiovascular prevention units. The electronic databases were screened for likely FH phenotype, which was described simply as LDL-C ≥6.5 mmol/l. RESULTS Likely FH phenotype was observed in 1385 (1.5%) middle-aged Lithuanians, 290 (16.9%) people with premature CHD and 330 adults from high-risk subjects referred to specialized cardiovascular prevention units. A total of 2005 patients with likely phenotypic FH were included in the Lithuanian FH screening programme, covering about 15% of estimated FH cases in Lithuania. CONCLUSIONS Screening for extremely elevated LDL-C levels in primary prevention database and additional enrolment of patients with premature CVD as well as high-risk subjects may be a valid way to set up a national FH screening programme. It is crucially important to identify and initiate the treatment of FH patients as early as possible to reduce high cardiovascular mortality in these patients.

Lipid profile evaluation and severe hypercholesterolaemia screening in the middle-aged population according to nationwide primary prevention programme in Lithuania

BACKGROUND AND AIMS Cardiovascular disease (CVD) is a major cause of premature death in Lithuania where abnormal lipid levels are very common among middle-aged adults. The aim of this study was to evaluate lipid profile in middle-aged Lithuanians and perform population-based severe hypercholesterolaemia (SH) screening. METHODS This study included men aged 40-54 and women aged 50-64 years without overt CVD, participating in the Lithuanian High Cardiovascular Risk (LitHiR) primary prevention programme during the period 2009-2016. Lipidograms of 92,373 adults (58.4% women and 41.6% men) included in the database were analysed and screening for SH was performed. RESULTS The mean levels of total cholesterol, LDL cholesterol (LDL-C) and triglycerides (TG) among participants were 6.08 mmol/l, 3.87 mmol/l, and 1.59 mmol/l, respectively. Any type of dyslipidaemia was present in 89.7%, and severe dyslipidaemia in 13.4% of the study population. 80.2% of adults without overt CVD had LDL-C ≥3 mmol/l. SH (LDL-C ≥6 mmol/l) was detected in 3.2% of study participants. Prevalence of SH decreased from 2.91% to 2.82% during the period 2009-2016 (p for trend = 0.003). LDL-C ≥6.5 mmol/l was observed in 1.5% of subjects while both LDL-C ≥6.5 mmol/l, and TG ≤ 1.7 mmol/l was found in 0.6% of subjects. CONCLUSIONS SH was present in 3.2% of the middle-aged population without overt CVD. Slightly decreasing prevalence of SH was observed during the period 2009-2016 in Lithuania. Likely phenotypic familial hypercholesterolaemia was observed in 1.5% of middle-aged Lithuanians. Further clinical and genetic evaluation of people with SH is needed to detect familial forms of SH.

EFFECT OF RENAL SYMPATHETIC DENERVATION ON CARDIAC SYMPATHETIC NERVE ACTIVITY ASSESSED WITH IODINE 123 METAIODOBENZYLGUANIDINE SCINTIGRAPHY

The objective of the present study was to investigate the effect of renal sympathetic denervation (RSD) in patients with resistant hypertension and RSD effect on cardiac sympathetic nerve activity. It is known that abnormally activated sympathetic and altered parasympathetic tone is associated with