Cardiovascular disease and cholesterol lowering therapy in women and men with molecularly defined heterozygous familial hypercholesterolemia from Brazil.

Abstract

Background: Data on the epidemiology of familial hypercholesterolemia (FH) in developing regions based on contemporary, molecularly defined FH cohorts categorized by sex is scarce.

Objective: Evaluate the differences in cardiovascular disease (CVD) outcomes and lipid-lowering therapy (LLT) between men and women with molecularly defined heterozygous FH participating in a cascade screening program.

Methods: We included 794 adult FH patients (age 47 ± 15 years, 56.8% women). The median follow-up was 59.0 (IQR 32.5-86.0) months.

Results: At baseline, there were no sex differences regarding genetic defects, low-density lipoprotein cholesterol (LDL-C) years score (12,687± 6047 and 13,011 ± 6576 in men and women, P = .477), and intensive LLT use (74.7% and 75.1% in men and women; P = .915). Men had a higher frequency of prior CVD, 30.4% vs 13.8% (P < .001). During follow-up, men and women were treated similarly with intensive LLT (88.6% and 87.8%; P = .983); however, most participants remained with elevated LDL-C concentrations. The rate of events (1000 patient-years) was 34.40 (95% CI: 26.21- 45.15) and 17.69 (95% CI: 13.03-24.03) for men and women, respectively (P = .001). Current smoking (hazard ratio [HR]: 3.058, 95% CI: 1.597-5.885, P < .001), corneal arcus (HR: 1.763, 95% CI: 1.092-2.847, P = .02), prior CVD (HR: 1.704, 95% CI: 1.006-2.887, P = .048), triglycerides (HR: 1.002, 95% CI 1.000-1.003, P = .008) and high-density lipoprotein cholesterol (HR= 0.975, 95% CI: 0.953-0.998, P = .033) were independently associated with incident events.

Conclusions: Men with FH were at a higher and earlier CVD risk than women; there was no difference in treatment intensity, with most patients remaining with high LDL-C.