Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study
- Authors: Casula, Manuela; Gazzotti, Marta; Capra, Maria Elena; Olmastroni, Elena; Galimberti, Federica; Catapano, Alberico L; Pederiva, Cristina, Adriano Anesi, Marcello Arca, Renata Auricchio, Maurizio Averna, Davide Baldera, Giuseppe Banderali, Guglielmo Beccuti, Andrea Benso, Martina Berteotti, Stefano Bertolini, Vanessa Bianconi, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Patrizia Bruzzi, Marco Bucci, Paola Sabrina Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, Raimondo Cavallaro, Angelo Baldassare Cefalu', Arturo Cesaro, Francesco Cipollone, Nadia Citroni, Emanuela Colombo, Chiara Coppola, Sergio D'Addato, Beatrice Dal Pino, Edoardo Dalla Nora, Giuseppe De Corrado, Maria Del Ben, Sergio Di Molfetta, Maria Donata Di Taranto, Giulia Fainelli, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Elena Formisano, Giuliana Fortunato, Andrea Giaccari, Francesco Giorgino, Liliana Grigore, Ornella Guardamagna, Arcangelo Iannuzzi, Gabriella Iannuzzo, Lorenzo Iughetti, Salvatore Lia, Susanna Longo, Alessandro Lupi, Giuseppe Mandraffino, Rossella Marcucci, Lorenzo Maroni, Giulia Massini, Elisa Mazza, Elena Melchioda, Giancarla Meregalli, Ilenia Minicocci, Simona Moffa, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Emanuele Alberto Negri, Serena Notargiacomo, Filippo Maria Panfili, Gianfranco Parati, Angelina Passaro, Chiara Pavanello, Valerio Pecchioli, Lorenzo Pecchioli, Fabio Pellegatta, Francesco Massimo Perla, Antonio Pipolo, Salvatore Piro, Matteo Pirro, Livia Pisciotta, Roberta Pujia, Carolina Putotto, Elena Repetti, Elisabetta Rinaldi, Alessandra Romandini, Elena Sani, Silvia Sarnari, Riccardo Sarzani, Francesco Sbrana, Roberto Scicali, Michele Scuruchi, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Pierandrea Vinci, José Pablo Werba, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti
- Publication year: 2023
- Type: Articolo in rivista
- OA Link: http://hdl.handle.net/10447/619480
Abstract
Background and aims: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age. Methods: From the Italian LIPIGEN cohort, we selected 1188 (≥18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation. Results: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives. Conclusions: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age.