%0 Journal Article
%T Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia.
%A Raslova K
%A Donicova V
%A Gonova K
%A Klabnik A
%A Tichy L
%A Bridges I
%A Buckova D
%A Zachlederova M
%A Freiberger T
%A Vohnout B
%J J Clin Lipidol
%V 0
%N 0
%D 2024 Mar 29
%M 38955586
%F 5.365
%R 10.1016/j.jacl.2024.03.009
%X <B>BACKGROUND: </B>In Slovakia, a mandatory national universal pediatric total cholesterol (TC) screening program is in place to identify cases of familial hypercholesterolemia (FH). However, the program's effectiveness has not been systematically assessed.<BR><B>OBJECTIVE: </B>This study aimed to estimate the prevalence of FH among parents of children that had elevated TC levels identified during screening.<BR><B>METHODS: </B>This prospective, non-interventional, observational study enrolled parents of 11-year-old children who underwent TC screening in 23 selected pediatric outpatient clinics between 2017 and 2018. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and targeted next-generation sequencing. The primary objective was to estimate the proportion of children with a TC level of >188 mg/dL (>4.85 mmol/L) who had a parent with a confirmed diagnosis of FH.<BR><B>RESULTS: </B>A total of 112 parents of 56 children with an elevated TC level were enrolled. Five children (8.9%) had a parent in whom FH was genetically confirmed. Without genetic analysis, all five parents would only be diagnosed with "possible FH" by DLCN criteria. Of parents, 83.9% (n = 94/112) had an LDL-C level of >116 mg/dL (>3 mmol/L), but only 5.3% (n = 5/94) received lipid-lowering therapy. Among the five parents with genetically confirmed FH, all had an LDL-C level >116 mg/dL (>3 mmol/L), with a mean (±SD) of 191 (±24) mg/dL (4.94 [±0.61] mmol/L). Only two of these parents received lipid-lowering therapy.<BR><B>CONCLUSIONS: </B>The present study demonstrates the significance of mandatory universal pediatric TC screening in identifying families with FH and other at-risk families in need of lipid-lowering therapy.