Abstract 11159: Absence of Coronary Artery Calcification in Heterozygous Familial Hypercholesterolemia: A Systematic Review and Pooled-analysis of Published Studies.

Abstract

Introduction: Absence of coronary artery calcium has been confirmed as one the strongest negative markers associated with favorable prognosis in prospective observational studies and has been acknowledged by recent AHA/ACC 2018 primary prevention guidelines. Individuals with heterozygous familial hypercholesterolemia (FH) have an increased, yet heterogeneous risk of atherosclerotic cardiovascular disease (ASVCD). In this systematic review, we aim to assess the prevalence of CAC zero among heterozygous FH patients without established ASCVD., Methods: We performed a systematic review and pooled-analysis of observational, English-language studies of CAC in FH patients with no previous manifestation of ASCVD. An electronic search of the PubMed and EMBASE databases was conducted, and a single pooled prevalence estimate with a 95% confidence interval (CI) was calculated., Results: We analyzed aggregated data from seven studies comprising 1029 asymptomatic FH patients (mean age 46 years, 54% women, on-treatment low-density lipoprotein cholesterol (LDL-C) 142.9 +/- 52.7 mg/dL) in which 879 (85%) had genetically confirmed FH. Overall, 82% of FH patients were receiving statins. Diabetes mellitus and hypertension were present in 4% and 15% of individuals, respectively, and 23% were former or current smokers. The prevalence of a CAC score of 0 among the included studies ranged from 22.0% to 68.8%. Furthermore, 459 patients had CAC scores of 0, and the unadjusted pooled prevalence estimate was 46.3% (95% CI: 33.7 - 58.9)., Conclusions: Despite genetic predisposition and long-standing exposure to very elevated LDL-C, nearly 1 in every 2 patients with heterozygous FH have CAC=0. Further outcomes studies are needed to better define the prognostic implications of CAC=0 among heterozygous FH patients as well as describe factors associated with resiliency to coronary atherosclerosis in FH., (C) 2019 by the American College of Cardiology Foundation and the American Heart Association, Inc.