LDL-cholesterol goal achievement, cardiovascular disease, and attributed risk of Lp(a) in a large cohort of predominantly genetically verified familial hypercholesterolemia

Abstract

Current treatment goals for familial hypercholesterolemia (FH) recommended by the European Atherosclerosis Society (EAS) are LDL-C ≤2.5mmol/L (∼100mg/dL) or ≤1.8mmol/L (∼70mg/dL) in very high-risk subjects. The objective of the present study was to investigate characteristics and treatment status in subjects with genetically verified FH followed at specialized lipid clinics in Norway. Data from treatment registries of 714 adult (>18years) subjects with FH. Fifty-seven percent were female. Mean age (SD) at last visit was 44 (16.3) years, and the subjects had been followed at a lipid clinic for 11.1 (7.9) years. Two hundred forty-five (34%) were classified as very-high-risk, and 44% of these had established coronary heart disease. Very-high-risk FH subjects more often received maximal statin dose (54% vs 33%, P<.001), ezetimibe (76% vs 48%, P<.001) or resins (23% vs 9%, P<.001), and achieved LDL-C was lower (3.2 vs 3.5mmol/L [124 vs 135mg/dL], P=.003) than normal-risk FH. LDL-C treatment goal was achieved in 25% and 8% of subjects with normal-risk and very-high-risk FH, respectively. Lp(a) levels were available in 599 subjects, and they were divided into 2 groups: ≥90mg/dL (n=96) and <90mg/dL (n=503). Despite similar lipid levels, body mass index, smoking status, presence of diabetes, and blood pressure, prevalence of coronary heart disease was doubled in the high- compared to low-Lp(a) group (30% vs 14%, P<.001). Very few FH subjects achieve their LDL-C treatment goal. New treatment modalities are needed. Independent of LDL-C and other risk factors, high Lp(a) seem to be an important additional risk factor in genetically verified FH.