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Clinical and genetic diagnosis of familial hypercholesterolaemia in patients undergoing coronary angiography: the Ludwigshafen Risk and Cardiovascular Health Study.

Stefan MolnarHubert ScharnaglGraciela E DelgadoBernhard K KrämerUlrich LaufsWinfried MärzMarcus E KleberJulius L Katzmann
Published in: European heart journal. Quality of care & clinical outcomes (2024)
FH is up to fourfold more prevalent in patients undergoing coronary angiography than in contemporary cohorts representing the general population. Different clinical criteria yield substantially different diagnosis rates, overestimating the prevalence of FH compared to genetic testing. LDL-C testing alone may be sufficient to raise the suspicion of FH, which then needs to be corroborated by genetic testing.
Keyphrases
  • patients undergoing
  • genome wide
  • early onset
  • copy number
  • dna methylation