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

Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Ruoyu Sun, Manuela Decker, Michaela Sander, Stefan Holdenrieder, Florian Kohlmayer, Anna Friedmann, Volker Mall, Therese Feiler, Arne Dreßler, Tim M. Strom, Holger Prokisch, Thomas Meitinger, Moritz Von Scheidt, Wolfgang Koenig, Georg LeipoldHeribert Schunkert

Research output: Contribution to journalArticlepeer-review

Abstract

Familial hypercholesterolemia (FH) is the most frequent monogenic disorder (prevalence 1:250) in the general population. Early diagnosis during childhood enables pre-emptive treatment, thus reducing the risk of severe atherosclerotic manifestations later in life. Nonetheless, FH screening programs are scarce. VRONI offers all children aged 5-14 years in Bavaria a FH screening in the context of regular pediatric visits. LDL-cholesterol (LDL-C) is measured centrally, followed by genetic analysis for FH if exceeding the age-specific 95th percentile (130 mg/dl, 3.34 mmol/l). Children with FH pathogenic variants are treated by specialized pediatricians and offered a FH-focused training course by a qualified training center. Reverse cascade screening is recommended for all first-degree relatives. VRONI aims to prove the feasibility of a population-based FH screening in children and to lay the foundation for a nationwide screening program.

Original languageEnglish
Pages (from-to)41-51
Number of pages11
JournalMedizinische Genetik
Volume34
Issue number1
DOIs
StatePublished - 1 Apr 2022

Keywords

  • DigiMed Bayern
  • VRONI
  • atherosclerosis
  • familial hypercholesterolemia
  • hyperlipidemia
  • screening

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