Familial Hypercholesterolemia, Familial Combined Hyperlipidemia and Elevated Lipoprotein(a) in Patients with Premature Coronary Artery Disease.

Abstract Background Familial hypercholesterolemia (FH), familial combined hyperlipidemia (FCHL), and elevated lipoprotein (a) [Lp(a)] increase risk of premature coronary artery disease (CAD). The objective of this study was to assess the prevalence of FH, FCHL, elevated Lp(a) and their impact on management in patients with premature CAD. Methods We prospectively recruited males ≤ 50 years and females ≤ 55 with obstructive CAD. FH was defined as Dutch Lipid Clinic Network scores ≥ 6. FCHL was defined as apolipoprotein B >1.2 g/L, triglyceride and total cholesterol >90th population percentile, and family history of premature cardiovascular disease. Lp(a) ≥50 mg/dL was considered elevated. Results Among 263 participants, 9.1% met criteria for FH, 12.5% for FCHL, 19.4% had elevated Lp(a). Among patients with FH, 37.5% had a FH-causing variant. Patients with FH, but not other dyslipidemias, were more likely than non-dyslipidemic patients to have received lipid-lowering therapy prior to presenting with CAD (33.3% vs 12.3%, p=0.04) and combined lipid-lowering therapy after the presentation (41.7% vs 7.7%, p Conclusion FH, FCHL and elevated Lp(a) are common in patients with premature CAD and differently impact treatment and achievement of lipid targets. Assessment for these conditions in patients with premature CAD provides valuable information for individualized management.