AUTHOR=Gazzotti Marta , Casula Manuela , Bertolini Stefano , Capra Maria Elena , Olmastroni Elena , Catapano Alberico Luigi , Pederiva Cristina , the LIPIGEN Paediatric Group , Allevi Massimiliano , Arca Marcello , Auricchio Renata , Averna Maurizio , Baldera Davide , Banderali Giuseppe , Bartuli Andrea , Bertolini Stefano , Biasucci Giacomo , Borghi Claudio , Bruzzi Patrizia , Buganza Raffaele , Buonuomo Paola Sabrina , Calabrò Paolo , Calandra Sebastiano , Capra Maria Elena , Carubbi Francesca , Casula Manuela , Catapano Alberico Luigi , Cesaro Arturo , Cipollone Francesco , Citroni Nadia , Covetti Giuseppe , Cremonini Annalaura , D’Addato Sergio , Del Ben Maria , Di Taranto Maria Donata , Fortunato Giuliana , Franceschi Roberto , Galimberti Federica , Gazzotti Marta , Genovesi Simonetta , Giammanco Antonina , Grigore Liliana , Guardamagna Ornella , Iannuzzi Arcangelo , Iannuzzo Gabriella , Iughetti Lorenzo , Lascala Lidia , Locatelli Fabiana , Madaghiele Sara , Mandraffino Giuseppe , Mannarino Massimo Raffaele , Marco Bucci , Maroni Lorenzo , Minicocci Ilenia , Mombelli Giuliana , Muntoni Sandro , Nascimbeni Fabio , Olmastroni Elena , Parati Gianfranco , Passaro Angelina , Pavanello Chiara , Pederiva Cristina , Pellegatta Fabio , Perla Francesco Massimo , Pirro Matteo , Pisciotta Livia , Pujia Arturo , Purrello Francesco , Rinaldi Elisabetta , Sarzani Riccardo , Scicali Roberto , Suppressa Patrizia , Tarugi Patrizia , Verachtert Sabrina , Vigna Giovanni Battista , Werba Josè Pablo , Zambon Alberto , Zambon Sabina , Zenti Maria Grazia TITLE=The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.912510 DOI=10.3389/fgene.2022.912510 ISSN=1664-8021 ABSTRACT=

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details.