Background and aims: Prevalence of familial hypercholesterolemia (FH), a common genetic disorder with a high risk for coronary artery disease (CAD), is high among CAD patients; however, data on FH prevalence among acute coronary syndrome (ACS) patients are limited. EXPLORE-J is the largest registry to diagnose FH among Japanese ACS patients using the 2012 Japan Atherosclerosis Society guidelines.
Methods: This prospective study consecutively recruited patients between April 2015 and August 2016 at 59 sites. Low-density lipoprotein cholesterol (LDL-C) levels, family history of premature CAD, presence of tendon xanthomas, and Achilles tendon radiograms were recorded at baseline. The prevalence rate of FH in patients with ACS was estimated with 95% CI.
Results: Of 1944 analyzed patients (mean age, 66.0 years; men, 80.3%), 52 (2.7% [95% CI: 2.0-3.5]) had FH. Thirty-one (1.6%) had LDL-C ≥180 mg/dL and Achilles tendon thickness (ATT) ≥9 mm, 8 (0.4%) had LDL-C ≥180 mg/dL and family history of premature CAD, 10 (0.5%) had ATT ≥9 mm and family history of premature CAD, and 3 (0.2%) met all the criteria. FH patients were younger than those without FH (59.5 [12.5] vs. 66.2 [12.1] years; p < 0.001). More patients with premature ACS (men, <55 years; women, <65 years) than without (4.7% [95% CI: 2.9-7.2] vs. 2.1% [1.4-3.0]) had FH.
Conclusions: FH prevalence is at least five-fold higher in ACS patients than in the general population, especially in patients with premature ACS onset and ATT ≥9 mm. FH screening in ACS patients is therefore clinically important and critical.
Keywords: Achilles tendon thickness; Acute coronary syndrome; Coronary artery disease; Familial hypercholesterolemia; Low-density lipoprotein.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.