# Genetisch bewijs versnelt statinetherapie bij kinderen met heterozygote FH

*geplaatst 2026-10-31 · Cholesterol · European journal of pediatrics · doi 10.1007/s00431-026-07535-9 · https://hartvaat.nl/2026/10/23/genetisch-bewijs-versnelt-statinetherapie-bij-kinderen-met-heterozygote-fh/*

Een Italiaanse kinderartsenstudie onderzocht 382 kinderen met vermoeden op heterozygote familiaire hypercholesterolemie (FH). Patiënten met een pathogene LDLR-mutatie hadden een ernstiger LDL-C-profiel en kregen vaker statinen (87% versus 50% bij inconclusief genetisch resultaat). Dit bevestigt dat een bevestigde genetische diagnose de therapietrouw en vroegtijdige lipidendaling bij kinderen kan verbeteren, wat op lange termijn het cardiovasculaire risico verlaagt.

## English: Heterozygous familial hypercholesterolemia in Italian children: a road map through a single center's experience.

A single-center cohort of 382 Italian children with suspected heterozygous familial hypercholesterolemia (FH) showed that those with pathogenic LDLR variants had significantly higher LDL-C levels and were more likely to start statin therapy (87% vs 50% in the inconclusive genetic group). The findings indicate that confirmed genetic testing not only clarifies diagnosis but also improves treatment initiation and adherence in pediatric FH. Early lipid-lowering therapy guided by genetic results may help reduce lifelong cardiovascular risk in this population.

## Abstract (original, from the publication)

UNLABELLED: This study aims to evaluate the clinical, biochemical, and molecular characteristics of pediatric patients with suspected familial hypercholesterolemia (FH, OMIM #143890) and to investigate whether the presence of pathogenic low-density lipoprotein receptor (LDLR) variants is associated with differences in lipid profile severity and treatment initiation compared with inconclusive genetic findings. We report the clinical, biochemical and molecular data of 382 patients diagnosed in a single pediatric center. Patients carrying pathogenic low-density lipoprotein receptor (LDLR) variants exhibited significantly more severe dyslipidemia compared with those with inconclusive genetic findings, particularly in terms of elevated LDL-C, the hallmark of FH. No significant differences were observed in age, weight, height, or body mass index, confirming that lipid abnormalities are primarily attributable to genetic factors. Treatment uptake was higher in the pathogenic group, with 87% initiating statin-based therapy compared with 50% in the inconclusive group, suggesting that a confirmed genetic diagnosis may improve treatment adherence. CONCLUSION: Pathogenic variants in the LDLR gene are associated with a more severe lipid profile and a higher likelihood of initiating lipid-lowering therapy. These findings support the clinical value of genetic testing in familial hypercholesterolemia, both for improving diagnostic accuracy and for promoting earlier therapeutic intervention and adherence. WHAT IS KNOWN: • Familial hypercholesterolemia is a common, treatable genetic disorder, and early diagnosis with lipid-lowering therapy from childhood reduces lifelong cardiovascular risk. • Most cases of heterozygous FH are caused by pathogenic LDLR variants, but data on treatment uptake in children are limited. WHAT IS NEW: • In 382 Italian children, those with pathogenic LDLR variants had higher LDL-C than those with inconclusive genetic results. Their lipid profiles also differed depending on the exon and protein domain affected. • Treatment was started in 87% of children with a confirmed genetic diagnosis and in 50% of those with inconclusive results. This suggests that genetic confirmation may help families accept treatment.

Auteurs: Daniele Perrino, Delia Monopoli, Daniela Verrigni, Elisa Lorefice, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Davide Vecchio, Roberta Taurisano, Antonio Novelli, Andrea Bartuli, Maria Gnazzo, Paola Sabrina Buonuomo

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Bron: European journal of pediatrics, https://doi.org/10.1007/s00431-026-07535-9. Bijgewerkt 2026-10-24T01:28:49Z. Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.