220 - The LIPIGEN paediatric group: characterization of children and adolescents affected by familial hypercholesterolemia in Italy (ID 407)
Abstract
Background and Aims
Familial hypercholesterolemia (FH) is a common genetic disorder characterized by elevated LDL cholesterol (LDL-c) concentrations from birth, predisposing to premature coronary heart disease (CHD). Early detection and treatment in childhood/adolescence are crucial to achieve normal life expectancy. In 2018, the LIPIGEN paediatric group was constituted within the Italian LIPIGEN Network, to improve detection, diagnosis, and management of paediatric FH patients.
Methods
In this preliminary analysis, we selected LIPIGEN patients <18 years to evaluate clinical characteristics, biochemical parameters, and genetic profile.
Results
The analyses were carried out on 1200 LIPIGEN patients (47.3% males). At diagnostic visit, the study population was composed by 16.6% of subjects with 0-5 years, 41.7% with 6-10 years, 24.7% with 11-13 years, and 17.0% with 14-17 years. The mean age at diagnosis was 9.0±3.7 years. Excluding subjects with missing data, family history of early CHD was positive in 12.5% of cases, while prevalence of LDL-c>190 mg/dL among first-degree family members was 68.1%. Mean LDL-c levels among untreated subjects (N=1116), stratified by the four age classes, were 205.5±77.5, 175.9±71.7, 166.8±59.5, and 192.4±59.2 mg/dL, respectively. Among the subjects with genetic testing (N=1023), 53.6% had positive genetic diagnosis of FH: 95.8% heterozygous for mutations on LDL receptor gene (LDL-R) and one homozygous subject (2 years old with LDL-c 877 mg/dL).
Conclusions
This preliminary analysis offers a general view of paediatric data collected until now in the LIPIGEN study, setting the stage to plan an in-depth data collection to better understand the specific diagnostic approach required for paediatric patients.
