Familial hypercholesterolemia (FH) is at very high risk of early myocardial infarction (MI). However, coronary artery disease (CAD) burden of FH in acute MI remains unclear. From a large database of a regional registry of acute MI, we aimed to address FH prevalence and CAD characteristics.

Consecutive patients with AMI in the multicentre database (RICO survey) from 2001–2017 were considered. An algorithm, adapted from Dutch lipid clinic network criteria, was built upon 4 variables [LDL-cholesterol (C) level and chronic lipid lowering agents, premature and family history of CAD] to identify FH probabilities.

Among the 11,624 patients included in the RICO survey, 249(2.1%) had probable/definite FH (score≥6), and 2405(20.7%) had possible FH (score 3–5). When compared with patients without FH (score 0–2), FH patients (score≥6) were≈20y younger [51(46–57) vs. 71(61–80)y, P<0.001], with a lower rate of hypertension (47 vs. 59%, P<0.001), diabetes (17 vs. 25%, P<0.001) and prior stroke (4 vs. 8%, P<0.001), but a higher prevalence of smokers (56 vs. 23%, P<0.001), personal (20 vs. 15%, P<0.001) or familial history of CAD (78 vs. 18%, P<0.001). Moreover, median LDL-C was≈twice higher [2.07(1.75–2.41) vs. 1.12(0.88–1.36) g/L]. Chronic statin was only used in less than half FH patients (48%). Among patients who underwent coronary angiography, FH patients were characterized by increased extent of CAD [syntax score 11(5–19) vs. 10(5–18), P<0.001], and multivessel disease (55 vs. 54%, P<0.001). Rate of revascularisation was higher (percutaneous coronary intervention: 76 vs. 70%, P<0.001 and coronary artery bypass graft: 7 vs. 6%, P<0.001).

In this large real world population of acute MI, a high prevalence of FH was found. Moreover, FH patients were characterized by their young age associated with the severity of CAD burden and limited use of preventive lipid lowering therapy, suggesting the opportunity for prevention strategies.