Description
Slovenia (population 2 million) started universal screening for hypercholesterolemia in 5-year-old children in 1995. Screening was gradually implemented throughout the whole country, reaching an estimated and sustained majority of 5-year-old children (>90% of approximately 20,000) during 2013. Measurement of fasting serum TC is part of the national programmed routine examination of 5-year-old children by primary paediatricians (Slovenia national universal screening for hypercholesterolemia). According to national guidelines, participants with either a serum TC level of >6 mmol/l (231.7 mg/dl) without a family history of premature cardiovascular complications or with a TC level of >5 mmol/l (193.1 mg/dl) with a family history positive for premature cardiovascular complications are referred after a consultation with their parents to a tertiary pediatric outpatient clinic. Data for participants" family histories are obtained in direct structured conversations with the parents. Participants" weight, body mass index, serum lipid profile (TC, LDL, high-density cholesterol [HDL], triglyceride), and whole-blood samples for targeted, next-generation sequencing (NGS) are obtained. Simon Broome Register criteria are used for assessment of family history. Positive family history is defined as MI before 50 years of age in any second-degree relative or before 60 years of age in any first-degree relative or as TC >7.5 mmol/l (289.6 mg/dl) in any first- or second-degree relative (first-degree relation included parent, offspring or sibling; second-degree relation included grandparent, grandchild, nephew, niece, or half-sibling). Written informed consent is obtained from all parents or legal guardians. Excluding secondary dyslipidemia is crucial in diagnostics. Patients should receive cardiology care post-pediatric clinic.Program launch date
1995 (approx. 30 years)Responsible entity
National Health FundAvailable results and quality metrics
For every 1000 children screened, 2.3 are identified with positive FH results and 3.4 with possible FH. The prevalence is 1/273 for possible FH, 1/409 for confirmed FH, and 1/297,000 for homozygous FH. Most children with FH are now diagnosed each generation. Positive tests enable cascade FH genetic testing for parents with high cholesterol. The Slovenian Heart Foundation reports that diagnosis rates increased from 1% to 20% in 15 years. Direct costs for new confirmed FH cases are about $1,015.Limitations / comments
Screening was gradually implemented nationwide during the programmed visit of all children aged five years at the primary care paediatrician, and as shown by the Slovenian national FH registry, the programme now reaches approximately 91% of the population of around 20,000 children each year. The main limitation is that currently still approx. 10% of children do not participate in the 5-year old"s examination (despite it is obligatory).