Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study. in Atherosclerosis / Atherosclerosis. 2023 Nov;385:117231. doi: 10.1016/j.atherosclerosis.2023.117231. Epub 2023 Aug 12.

2023
ASL VCO
ASL Asti
AOU San Luigi di Orbassano

Tipo pubblicazione

Journal Article

Autori/Collaboratori (7)Vedi tutti...

Catapano AL
IRCCS MultiMedica, Sesto San Giovanni, Milan, 20099, Italy.
Pederiva C
Clinical Service for Dyslipidaemias, Study and Prevention of Atherosclerosis in Childhood, Paediatrics Unit, ASST-Santi Paolo e Carlo, 20142, Milan, Italy.
Galimberti F
IRCCS MultiMedica, Sesto San Giovanni, Milan, 20099, Italy.

et alii...

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.

Accesso banca dati bibliografica

PMID : 37648636

DOI : 10.1016/j.atherosclerosis.2023.117231

Keywords

Genetic dyslipidemia; Childhood; Heterozygote; Coronary Artery Disease; Risk Factors; Hyperlipoproteinemia Type II/diagnosis/epidemiology/genetics; Hypercholesterolemia; Adolescent; Child; Humans; Adult; Paediatric familial hypercholesterolemia; Pathology registry;