[Digiphysical cascade screening model to diagnose familial hypercholesterolemia in relatives to an index case]

Lakartidningen. 2022 Apr 26:119:21210.
[Article in Swedish]

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant hereditary dyslipidemia that leads to high plasma cholesterol levels and a severely increased risk for premature cardiovascular disease. Early primary prevention with lipid lowering drugs can markedly reduce this risk. FH is underdiagnosed in Sweden. With a prevalence of 1:311, approximately 33 000 individuals in Sweden are expected to have FH but only a small percentage have been diagnosed up until now. We developed a digiphysical cascade screening model to diagnose FH in relatives of an index case with a confirmed pathogenic mutation in a FH disease gene. It has the potential to provide high-throughput and effective screening and the work model is now part of the clinical routine care at Karolinska University Hospital.

MeSH terms

  • Genetic Testing
  • Humans
  • Hyperlipoproteinemia Type II* / diagnosis
  • Hyperlipoproteinemia Type II* / genetics
  • Mass Screening
  • Mutation
  • Sweden