Original article Establishing a national screening programme for familial hypercholesterolaemia in Lithuania Zaneta Petrulioniene a, b, c , Urte Gargalskaite b, c, * , Sandra Kutkiene a, b, c , Justina Staigyte b , Rimante Cerkauskiene b, d , Aleksandras Laucevicius a, b, c a Vilnius University, Faculty of Medicine, Clinic of Cardiac and Vascular Diseases, Santariskiu str. 2, LT-08661, Vilnius, Lithuania b Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania c Vilnius University Hospital Santaros Klinikos, Santariskiu str. 2, 08661, Vilnius, Lithuania d Children‘s Hospital, Vilnius University Hospital Santaros Klinikos, Santariskiu str. 7, LT-08406, Vilnius, Lithuania article info Article history: Received 30 March 2018 Received in revised form 15 May 2018 Accepted 7 June 2018 Keywords: Familial hypercholesterolaemia National screening programme Primary prevention abstract 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 addi- tional 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. © 2018 Elsevier B.V. All rights reserved. 1. Introduction Familial hypercholesterolaemia (FH) is a common autosomal dominant condition characterized by severely elevated levels of serum cholesterol and associated with early atherosclerosis and premature coronary heart disease (CHD) [1]. Most cases are caused by mutations within the LDL receptor gene that decreases its proper function and results in high levels of plasma low-density lipoprotein (LDL) cholesterol [2]. There are two types of familial hypercholesterolaemia: heterozygous (He) FH, which affects between 1 in 200 to 1 in 500 people, and homozygous (Ho) FH, which occurs with the prevalence as high as one in 160,000 to 300,000 subjects [3e5]. The prevalence of FH in certain ethnic groups could be even higher [6]. Approximately 20 million people are affected by FH worldwide [7]. FH is widely underdiagnosed and undertreated as about three quarters of cases are undetected until middle age [8,9]. This represents a major problem, as at least 50% of men with FH will develop CHD by the age of 50 and women with FH have a 30% risk of CHD by the age of 60 years [10]. Early lipid-lowering treatment has been proved to be effective, so early identification of affected individuals is very important [11]. FH meets the criteria for systematic screening according to World Health Organization (WHO) as well as National Lipid Association recommendations of universal screening for elevated serum cholesterol, but only a few countries have established national * Corresponding author. Vilnius University Hospital Santaros Klinikos Santariskiu str. 2, 08661, Vilnius, Lithuania. E-mail address: urte.gargalskaite@santa.lt (U. Gargalskaite). Contents lists available at ScienceDirect Atherosclerosis journal homepage: www.elsevier.com/locate/atherosclerosis https://doi.org/10.1016/j.atherosclerosis.2018.06.012 0021-9150/© 2018 Elsevier B.V. All rights reserved. Atherosclerosis 277 (2018) 407e412