Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

ABSTRACT:

Background

Heterozygous familial hypercholesterolemia (FH) represents the most frequent monogenic disorder with an estimated prevalence of 1:250 in the general population. Diagnosis during childhood enables early initiation of preventive measures, reducing the risk of severe consecutive atherosclerotic manifestations. Nevertheless, population-based screening programs for FH are scarce.

Methods

In the VRONI study, children aged 5-14 years in Bavaria are invited to participate in an FH screening program during regular pediatric visits. The screening is based on low-density lipoprotein cholesterol measurements from capillary blood. If exceeding 130 mg/dl (3.34 mmol/l), i.e. the expected 95th percentile in this age group, subsequent molecular genetic analysis for FH is performed

SUBMITTER: Sanin V 

PROVIDER: S-EPMC9159326 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature