Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review

Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies

“…Our projected identification times are based on the resources and readiness of health care systems to implement screening and genetic testing which will vary between countries. Universal Screening of Children for FH has been introduced, with varying levels of uptake in Slovenia, USA and Australia [23][24][25]. We focused on screening at 1 year of age, because this is within the age range (1-9 years) when FH screening is most accurate [21] and because this has been shown to be feasible in the UK combined with immunisation [8].…”

“…Different models could be adopted in other countries if there are more suitable alternative entry points for screening in childhood. For example, in Slovenia children are screened for FH at age 4 [23], when a blood test is mandated for other reasons, and in the US, guidelines recommend screening at age 9 [24]. Advantages of linking screening to immunisation include high uptake (84% in the UK demonstration project) [8] and low cost (about £5 per child screened) [9] because children are already attending their health care provider and the two activities can be combined into one.…”

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review

“…We collected all the available clinical information of a now 31 year-old male patient, who was followed at the Department of Endocrinology, Diabetes, and Metabolism of the University Children's Hospital Ljubljana, UMC Ljubljana, Slovenia from the age of 4. FH in the patient was detected incidentally by the dermatologist before implementing the Slovenian universal screening program ( 5 – 8 ). The medical records were collected and entered into the national FH registry database with informed consent from the patient.…”

“…If untreated, patients with HoFH develop vascular lesions and cardiovascular disease (CVD) before the second decade of life and die before the end of the third decade of life ( 3 , 4 ). Slovenia is, according to the available data, the only country with implemented nationwide universal screening for FH in preschool children, detecting both HeFH and HoFH patients ( 5 – 8 ).…”

Highlights from the 87th EAS congress, 26–29th May 2019

“…Recent news from the EAS FHSC Registry has highlighted the extent of unmet needs in FH research and care [1], emphasising the importance of this initiative. Professor Kausik Ray (Imperial College, London, UK), who leads the Registry, overviewed new insights from individual lead investigators, including findings from the ELSA-Brazil study showing differences in FH prevalence according to ethnicity [2]; the DIAMOND-FH study in Switzerland showing how low-density lipoprotein cholesterol (LDL-C) levels are influenced by age in people with FH-causing variants in the APOB gene [3]; the impact of universal screening of children on cascade screening for FH in Slovenia [4]; as well as data from Serbia, Slovakia, Uzbekistan and South Africa [5][6][7][8], amongst others, highlighting the issue of undertreatment of FH. In addition, findings from Vietnam emphasised the need for education of FH patients to ensure uptake of statin treatment [9].…”