WP 3
Familial Hypercholesterolemia

Dr. med. Veronika Sanin

Funktionsoberärztin am TUM Universitätsklinikum Deutsches Herzzentrum

More information about the Vroni Study:

Vroni Study Center
TUM University Hospital German Heart Center
Lazarettstr. 36, 80636 München

Tel: 089-1218-2712
Fax: 089-1218-18-2712

mail@remove-this.myvroni.de 
www.myvroni.de 
 

Work Package 3: P4 Medicine for Familial Hypercholesterolemia – Vroni Study

Familial hypercholesterolemia (FH) is the most common monogenic inherited metabolic disorder (prevalence: 1 in 250) and, if left untreated, leads to significantly elevated LDL cholesterol already in childhood and premature coronary heart disease. Early diagnosis and treatment are crucial, but comprehensive screening programs are currently lacking.

Goals and Measures:

  • Early Detection:
    As part of the Vroni Study, all children in Bavaria (ages 5–14) are offered an FH screening. If LDL levels are abnormal, genetic analysis is performed.
  • Digital Infrastructure:
    Secure storage of data at the TUM University Hospital German Heart Center and provision via the DigiMed Bayern IT platform.
  • Family-Oriented Prevention:
    Positive findings lead to education, cholesterol testing for family members, and psycho-educational training. Children without the FH mutation are also encouraged to adopt a healthy lifestyle.
  • Registry & Research:
    Integration into the CaReHigh registry for cascade screening and epidemiological surveillance. The goal is to improve diagnosis, treatment, and care for FH patients in Germany.

Added Value:
AP3 lays the foundation for comprehensive early detection and prevention of FH – for better heart health starting in childhood.

Results Work Package 3

P4 Medicine: Early Detection and Care for Familial Hypercholesterolemia (FH) – The VRONI Study

Overview

Work Package 3 focuses on FH screening among children and adolescents in Bavaria. The goal is the early detection and treatment of familial hypercholesterolemia, a major risk factor for cardiovascular disease.

Key Findings

  • Screening Success:
    • Despite challenges posed by the pandemic, 28,000 children in Bavaria were screened and received follow-up care – a significant success for healthcare.
    • The expansion “VRONI im Norden”, under clinical leadership in Hanover and with separate funding, is another milestone.
  • Scientific and Policy Impact:
    • Findings from the VRONI study have played a key role in ensuring that nationwide FH screening is to be integrated into standard care as part of the “Healthy Heart Act” (GHG).
    • The study makes important contributions to optimizing FH diagnosis and treatment in children and implements these in practice.
    • Data sharing with the European Atherosclerosis Society’s Global FH Registry and contributions to the US NIH ClinVar archive – Europe-wide impact on diagnosis and treatment.
  • Genetic and Metabolic Analyses:
    • Calculation of polygenic risk scores in children to identify polygenic causes of hypercholesterolemia.
    • Development of metabolic profiles to identify new molecular biomarkers.
    • Development of an online genetic counseling service and process analysis to optimize study enrollment procedures.
  • Communication & Public Relations:
    • Comprehensive website and print materials: www.myvroni.de
    • Integration of VRONI into the BVKJ app “Meine Pädiatrische Praxis” to increase participant recruitment.
    • Regular newsletters, social media, presentations, and podcasts to inform physicians, parents, and the public.
  • Treatment Status and Follow-up Care:
    • Recording and improving treatment for identified children with FH.
    • On-site and online patient education.
    • Continuous follow-up care and integration into routine care.

Sustainability and Outlook

  • The actual implementation of the Healthy Heart Act with additional funding will remain a challenge in the coming years.
  • The VRONI study serves as a model for the sustainable improvement of healthcare and the establishment of FH screenings throughout Germany.
  • Further studies and analyses are planned to further optimize care and prevention.
Conclusion for Work Package 3

Through the VRONI study, Work Package 3 has made a significant contribution to the early detection and management of familial hypercholesterolemia in children. The findings are groundbreaking for the prevention of cardiovascular disease and have had a lasting impact on both scientific practice and health policy.