U. Grošelj
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Slovenija

J. Kovač
Služba za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

M. Mlinarič
Splošna bolnišnica Murska Sobota, Murska Sobota, Slovenija

U. Šuštar
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

K. Trebušak Podkrajšek
Služba za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

T. Battelino
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Familial hypercholesterolaemia (FH) is the most common inborn error of metabolism, and arguably the most common monogenic disorder, with an incidence of 1/250, but it is undoubtedly underdiagnosed. Untreated FH, especially in the age group of young adults, is associated with an extremely elevated risk of cardiovascular disease (CVD), which can be effectively prevented by appropriate and timely treatment if the disease is detected early. According to the available evidence in the literature, childhood is the most appropriate time for detection of FH, which enables early interventions for primary prevention of CVD. The Slovenian programme for universal screening for FH is carried out in two steps: (1) In the first step, universal screening for cholesterol at the primary level is carried out as a part of programmed preventive visits of all children before school entry; (2) In the second step, targeted genetic screening for FH is carried out at the UMC - University Children's Hospital Ljubljana (UMC - UCH Ljubljana) with the help of gene diagnostics in children with increased cholesterol levels (according to the referral criteria) and their parents. Children and adolescents with FH are subsequently followed-up in the Lipid Clinic at the UMC – UCH Ljubljana according to the international guidelines. In 2017, the National Register of Patients with Family Hypercholesterolemia and Rare Dyslipidaemias was established. With an ideal implementation of the screening programme in Slovenia, an average of 80 children with FH are expected to be detected annually, and for almost every child, a parent would be detected.

Key words: cholesterol, familial hypercholesterolaemia, universal screening, children.