Background: Familial hypercholesterolemia (FH), characterized by elevated plasma low-density lipoprotein-cholesterol (LDL-C) levels and premature coronary artery disease (CAD), remains mostly underdiagnosed and undertreated. We investigated the prevalence of clinical FH among Chinese patients with premature ST-segment-elevation myocardial infarction (STEMI) and one-year follow-up on their lipid management and cardiovascular events.
Methods: Four hundred and ninety-eight premature STEMI patients (363men) were enrolled. FH patients were identified using the Dutch Lipid Clinic Network Criteria. Lipid management and cardiovascular events in all patients were assessed.
Results: Nineteen patients (3.8%) were diagnosed as definite/probable FH, 211 (42.4%) as possible FH and 268 (53.8%) as unlikely FH. All patients were divided into two main groups: unlikely FH (0-2 points) and possible FH (≥3 points). Possible FH patients were younger (50.1 years vs. 53.5 years) with higher NT-proBNP level (3014.15 pg/mL vs. 2326.25 pg/mL), occurrence of multi-vessel CAD (37.4% vs. 18.3%), lower LVEF (47% vs. 49%) and more severe Killip classification (Class 3, 20.0% vs. 9.7%). Follow-up data were available for 203 patients from the possible FH group and 243 patients from the unlikely FH group. High intensity statin intake status (%) of possible FH vs. unlikely FH was as follows: 1) on admission: 4.8% vs. 0.4%; 2) at discharge: 10.4% vs. 1.6% and 3) at one year follow-up: 5.4% vs. 0.8%. A significantly low percentage of possible FH patients (18.7% vs. 51.4%) achieved target LDL-C levels. There were no significant differences in MACE defined as a composite of cardiogenic shock or Class IV heart failure, recurrent MI, cardiovascular-related rehospitalization, TLR and CV death between the two groups. However, the proportion of cardiogenic shock or Class IV heart failure was significantly higher in possible FH patients group (5.9% vs.1.2%).
Conclusion: Clinical diagnosis of possible FH is common in Chinese patients with premature STEMI. A low proportion of FH patients were prescribed high intensity statins. Despite aggressive cholesterol-lowering drugs, a significantly lower proportion of FH patients achieved LDL-C targets compared to unlikely FH patients. Possible FH patients were younger with a significantly higher occurrence of multi-vessel CAD and impaired cardiac function.