Urh Groselj1, Jernej Kovac2, Ursa Sustar3, Matej Mlinaric4, Zlatko Fras5, Katarina Trebusak Podkrajsek6, Tadej Battelino7. 1. Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia. 2. Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia. 3. Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia; Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia. 4. Department of Internal Medicine, General Hospital Murska Sobota, Murska Sobota, Slovenia. 5. Department of Vascular Diseases, Division of Internal Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia; Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. 6. Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. 7. Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address: tadej.battelino@mf.uni-lj.si.
Abstract
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is arguably the most common monogenic disorder in humans, but severely under-diagnosed. Individuals with untreated FH have an over 10-fold elevated risk of cardiovascular complications as compared to unaffected individuals; early diagnosis and timely management substantially reduce this risk. Slovenia has gradually implemented the program of universal FH screening in pre-school children, consisting of a two step approach: (1) universal hypercholesterolemia screening in pre-school children at the primary care level; (2) genetic FH screening in children referred to the tertiary care level according to clinical guidelines (with additional cascade screening of family members). The program is presented in detail. METHODS: We analyzed retrospective data (2012-2016), to assess the efficiency of the universal FH screening program. In that period, 280 children (59.3% female) were referred to our center through the program for having TC > 6 mmol/L (231.7 mg/dL) or >5 mmol/L (193.1 mg/dL), with a positive family history of premature cardiovascular complications at the universal hypercholesterolemia screening. RESULTS: 170 (57.1% female) of them were fully genotyped, 44.7% had an FH disease-causing variant (28.8% in LDLR gene, 15.9% in APOB, none in PCSK9), one patient was LIPA positive, and 40.9% of the remaining patients carried an ApoE4 isoform; genetic analysis is still ongoing for one-third of the referred patients. For almost every child with confirmed FH, one parent had highly probable FH. CONCLUSIONS: FH was confirmed in almost half of the referred children, detected through the universal screening for hypercholesterolemia.
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is arguably the most common monogenic disorder in humans, but severely under-diagnosed. Individuals with untreated FH have an over 10-fold elevated risk of cardiovascular complications as compared to unaffected individuals; early diagnosis and timely management substantially reduce this risk. Slovenia has gradually implemented the program of universal FH screening in pre-school children, consisting of a two step approach: (1) universal hypercholesterolemia screening in pre-school children at the primary care level; (2) genetic FH screening in children referred to the tertiary care level according to clinical guidelines (with additional cascade screening of family members). The program is presented in detail. METHODS: We analyzed retrospective data (2012-2016), to assess the efficiency of the universal FH screening program. In that period, 280 children (59.3% female) were referred to our center through the program for having TC > 6 mmol/L (231.7 mg/dL) or >5 mmol/L (193.1 mg/dL), with a positive family history of premature cardiovascular complications at the universal hypercholesterolemia screening. RESULTS: 170 (57.1% female) of them were fully genotyped, 44.7% had an FH disease-causing variant (28.8% in LDLR gene, 15.9% in APOB, none in PCSK9), one patient was LIPA positive, and 40.9% of the remaining patients carried an ApoE4 isoform; genetic analysis is still ongoing for one-third of the referred patients. For almost every child with confirmed FH, one parent had highly probable FH. CONCLUSIONS:FH was confirmed in almost half of the referred children, detected through the universal screening for hypercholesterolemia.
Authors: Veronika Sanin; Raphael Schmieder; Sara Ates; Lea Dewi Schlieben; Jens Wiehler; Ruoyu Sun; Manuela Decker; Michaela Sander; Stefan Holdenrieder; Florian Kohlmayer; Anna Friedmann; Volker Mall; Therese Feiler; Arne Dreßler; Tim M Strom; Holger Prokisch; Thomas Meitinger; Moritz von Scheidt; Wolfgang Koenig; Georg Leipold; Heribert Schunkert Journal: Eur J Public Health Date: 2022-06-01 Impact factor: 4.424