Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life

CONCLUSIONS: In the pediatric population, the combination of LDL-C ≥95th percentile in the proband and the dominant inheritance pattern of hypercholesterolemia, with LDL-C ≥95th percentile in one parent, is a simple, useful and effective diagnostic criterion, showing high MDR. This pattern is crucial for early FH diagnosis. EAS, SBR and LIPIGEN-FH-PED criteria can underestimate the real number of patients with gene mutations and cannot be considered strictly discriminant for the execution of molecular analysis.PMID:38667741 | DOI:10.3390/jcdd11040123

Source: Atherosclerosis - April 26, 2024 Category: Cardiology Authors: Raffaele Buganza Giulia Massini Maria Donata Di Taranto Giovanna Cardiero Luisa de Sanctis Ornella Guardamagna Source Type: research