Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase

Andreea Teodora Constantin; Ioana Streata; Mirela Silvia Covăcescu; Anca Lelia Riza; Ioana Roșca; Corina Delia; Lucia Maria Tudor; Ștefania Dorobanțu; Adina Dragoș; Diana Ristea; Mihai Ioana; Ioan Gherghina

doi:10.3390/diagnostics13121988

Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase

Diagnostics (Basel). 2023 Jun 7;13(12):1988. doi: 10.3390/diagnostics13121988.

Authors

Andreea Teodora Constantin^{1

2}, Ioana Streata^{3

4}, Mirela Silvia Covăcescu^{1

2}, Anca Lelia Riza^{3

4}, Ioana Roșca^{5

6}, Corina Delia^{1

7}, Lucia Maria Tudor^{1

2}, Ștefania Dorobanțu^{3

4}, Adina Dragoș^{3

4}, Diana Ristea⁴, Mihai Ioana^{3

4}, Ioan Gherghina²

Affiliations

¹ Pediatrics Department, National Institute for Mother and Child Health "Alessandrescu-Rusescu", 020395 Bucharest, Romania.
² Pediatrics Department, Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", 020021 Bucharest, Romania.
³ Genetics Department, University of Medicine and Pharmacy, 200349 Craiova, Romania.
⁴ Regional Center for Medical Genetics Dolj, 200642 Craiova, Romania.
⁵ Faculty of Midwifery and Nursery, University of Medicine and Pharmacy "Carol Davila", 020021 Bucharest, Romania.
⁶ Neonatology Department, Clinical Hospital of Obstetrics and Gynecology "Prof. Dr. P.Sârbu", 060251 Bucharest, Romania.
⁷ Faculty of Biology, University of Bucharest, 030018 Bucharest, Romania.

Abstract

Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a single-center cross-sectional showcase study of genetic testing for FH in a Romanian pediatric group. Genetic testing for FH was performed on 20 Romanian pediatric patients, 10 boys and 10 girls, admitted with LDL-cholesterol levels over 130 mg/mL to the National Institute for Mother and Child Health "Alesssandrescu-Rusescu" in 2020. Genetic testing was performed using the Illumina TruSight Cardio panel. We identified pathogenic/likely pathogenic variants that could explain the phenotype in 5/20 cases. The involved genes were LDLR and APOB. Clinical signs that suggest the diagnosis of FH are scarce for the pediatric patient, although it can be diagnosed early during childhood by lipid panel screening. Prevention could prove lifesaving for some of these patients.

Keywords: genetic; hypercholesterolemia; pediatrics.

Grants and funding

This work is supported by the National Health Program (XIII Programul național de sănătate a femeii și copilului 2.3. Prevenirea bolilor genetice prin diagostic pre- și postnatal), POCU ProGeneRare-SMIS code 108073 and POCU/993/6/13/13472.