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Establishing a national screening programme for familial hypercholesterolaemia in Lithuania

  • Zaneta Petrulioniene
    Affiliations
    Vilnius University, Faculty of Medicine, Clinic of Cardiac and Vascular Diseases, Santariskiu str. 2, LT-08661, Vilnius, Lithuania

    Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania

    Vilnius University Hospital Santaros Klinikos, Santariskiu str. 2, 08661, Vilnius, Lithuania
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  • Urte Gargalskaite
    Correspondence
    Corresponding author. Vilnius University Hospital Santaros Klinikos Santariskiu str. 2, 08661, Vilnius, Lithuania.
    Affiliations
    Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania

    Vilnius University Hospital Santaros Klinikos, Santariskiu str. 2, 08661, Vilnius, Lithuania
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  • Sandra Kutkiene
    Affiliations
    Vilnius University, Faculty of Medicine, Clinic of Cardiac and Vascular Diseases, Santariskiu str. 2, LT-08661, Vilnius, Lithuania

    Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania

    Vilnius University Hospital Santaros Klinikos, Santariskiu str. 2, 08661, Vilnius, Lithuania
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  • Justina Staigyte
    Affiliations
    Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania
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  • Rimante Cerkauskiene
    Affiliations
    Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania

    Children‘s Hospital, Vilnius University Hospital Santaros Klinikos, Santariskiu str. 7, LT-08406, Vilnius, Lithuania
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  • Aleksandras Laucevicius
    Affiliations
    Vilnius University, Faculty of Medicine, Clinic of Cardiac and Vascular Diseases, Santariskiu str. 2, LT-08661, Vilnius, Lithuania

    Vilnius University, Faculty of Medicine, M. K. Ciurlionio str. 21, 03101, Vilnius, Lithuania

    Vilnius University Hospital Santaros Klinikos, Santariskiu str. 2, 08661, Vilnius, Lithuania
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      Highlights

      • In 2017, the nationwide familial hypercholesterolaemia (FH) screening programme was started in Lithuania.
      • Screening for elevated LDL-C levels can identify patients with possible FH.
      • Primary prevention programme could be used for detection of possible FH.
      • 1 in 67 middle-aged patients have likely FH phenotype in Lithuania.
      • Examining subjects with possible FH will help identify FH “index cases”.

      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 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.

      Keywords

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