Abstract 16143: A Novel Clinical Prediction Model for Familial Hypercholesterolemia: Implementation of a Statin-correction Calculator to Enhance Diagnostic Yield

• Published in: Circulation (New York, N.Y.) N.Y.), 2020-11, Vol.142 (Suppl_3 Suppl 3), p.A16143-A16143
• Main Authors: Kanji, Zahara A, Sheikh, Mohammad S, Antwi-Amoabeng, Daniel, Beutler, Bryce H, Gullapalli, Nageshwara, Rowan, Christopher J
• Format: Article
• Language: English
• ISSN: 0009-7322; 1524-4539
• DOI: 10.1161/circ.142.suppl_3.16143

IntroductionFamilial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Individuals with FH have a 22-fold greater risk of early-onset cardiovascular disease as compared to the general population. Early identification of patients with FH is essential to prevent cardiovascular events. Diagnosis may be challenging however for individuals with underlying FH who are already receiving statin therapy, as criteria for FH rely on pre-treatment low-density lipoprotein (LDL) levels. We calculated pre-treatment LDL levels utilizing prior published literature by adjusting for serum LDL levels in patients receiving statins. This increased the diagnostic yield for gene-positive FH. HypothesisIntegration of statin-correction calculator with the Dutch Lipid Clinical Criteria (DLCC) and Simon Broome Criteria (SBC) for FH will increase sensitivity to identify gene-positive FH. Methods29,797 participants enrolled in the Healthy Nevada Project underwent whole-exome gene testing. 126 had a FH variant; 37 of these participants were on statin therapy. A statin-correction calculator was utilized to predict patients' pre-treatment LDL levels. The likelihood of FH was assessed based on two versions of the DLCC and SBCthe standard versions and enhanced versions with integration of the statin-correction calculator (eDLCC and eSBC). The McNemar test was used to compare the sensitivity of DLCC and SBC with eDLCC and eSBC, respectively, in identifying gene-positive FH. ResultsBy adjusting LDL levels for statin usage, 70.24% and 24.32% of participants with a negative diagnosis of FH were reclassified to positive using eDLCC and eSBC (p=0.001 and 0.008, respectively). ConclusionsIntegration of statin-correction calculator to correct LDL increases diagnostic yield for clinical FH.