Abstract Background Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications compared with those who are unaffected. ...Data for identification of FH with a universal screening for hypercholesterolemia in children are lacking. Objectives This study sought genetic identification of FH from a cohort of children with elevated serum total cholesterol (TC) concentration, detected in a national universal screening for hypercholesterolemia. Methods Slovenian children born between 1989 and 2009 (n = 272) with TC >6 mmol/l (231.7 mg/dl) or >5 mmol/l (193.1 mg/dl) plus a family history positive for premature cardiovascular complications, identified in a national universal screening for hypercholesterolemia at 5 years of age were genotyped for variants in LDLR , PCSK9 , APOB , and APOE. Results Of the referred children, 57.0% carried disease-causing variants for FH: 38.6% in LDLR , 18.4% in APOB , and none in PCSK9 . Nine novel disease-causing variants were identified, 8 in LDLR , and 1 in APOB . Of the remaining participants, 43.6% carried the APOE E4 isoform. Estimated detection rate of FH in the universal screening program from 2009 to 2013 was 53.6% (95% confidence interval CI: 34.5% to 72.8%), peaking in 2013 with an upper estimated detection rate of 96.3%. Variants in LDLR , APOB , or the APOE E4 isoform occurred in 48.6%, 60.0%, and 76.5%, respectively, of patients with a family history negative for cardiovascular complications. Conclusions Most participants who were referred from a national database of universal screening results for hypercholesterolemia had genetically confirmed FH. Data for family history may not suffice for reliable identification of patients through selective and cascade screening.
Slovenia's health system is financed by a Bismarckian type of social insurance system with a single insurer for a statutory health insurance, which is fully regulated by national legislation and ...administered by the Health Insurance Institute of Slovenia. The health insurance system is mandatory, providing almost universal coverage (98.5% of the population). Children and adolescents have the right to compulsory health insurance as family members of an insured person until the end of their regular education. Slovenia has a lower number of physicians per capita than both the European Union and the Central and Eastern Europe countries. Slovenia is facing a workforce crisis, as the number of health professionals retiring is not adequately being replaced by new trainees. There is also a net deficit of nurses with university and college degrees. Physicians working with children and adolescents in primary level have a 5-year specialization in pediatrics. Slovenia tends to be in line with the goals for the development of pediatric health care on a primary level in European countries, which are to maintain the achieved level of quality, better and equitable access, and delivery of services, aiming to reduce inequalities in health of children and adolescents and provide for every child and adolescent in the best way possible.
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