Molnar S, Scharnagl H, Delgado GE, Krämer BK, Laufs U, März W, Kleber ME, Katzmann JL
Familial hypercholesterolaemia (FH) prevalence was evaluated in 3,267 LURIC patients undergoing coronary angiography using four clinical criteria and genetic screening of 944 mutations. Diagnosis rates ranged from 2.2% to 7.9% by criterion, while pathogenic mutations were found in only 1.2%, showing that clinical tools overestimate FH. LDL-C corrected for statin intake achieved an AUC of 0.68, suggesting it suffices as an initial screen requiring genetic confirmation.
European Heart Journal. Quality of Care & Clinical Outcomes, 5. November 2024 | PMID 38196142