Population-Based Screening in Children for Early Diagnosis and Treatment of Familial Hypercholesterolemia: The VRONI Study

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 to 14 years in Bavaria are invited to participate in a FH screening program during regular pediatric visits. The screening is based on LDL-C 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. Children with FH pathogenic variants enter a registry and are treated by specialized pediatricians. For first degree relatives, reverse cascade screening is recommended to identify and treat affected family members.

Results: More than 480 pediatricians in Bavaria screened over 15,000 children. Overall, 150 children with pathogenic FH-mutations were identified by VRONI in Bavaria. But only one third of children with FH receive the necessary cholesterol-lowering treatment. In families from children with monogenic FH the prevalence of premature cardiovascular events is more frequent than in children with hypercholesterolemia alone or in children with normal LDL levels.

Conclusion: VRONI aims to incorporate molecular and clinical diagnostics into a systematic effort to identify individuals with FH early on, followed by a multidisciplinary treatment approach, spanning patient education and counselling as well as regular follow-up assessments and medical therapy. Together with the German Cardiac Society (DGK) and the Deutsche Herzstiftung the fully implemented FH screening strategy in Bavaria will be expanded to the northern parts of Germany. VRONI continues to lay the very foundation for implementing a population wide FH screening into the routine care of children in Germany.

Publication History

Article published online:
13 February 2024