Familial hypercholesterolemia (FH) has a high prevalence of cardiovascular morbidity and mortality, due to the lifelong cumulative exposure of high serum cholesterol levels.
The study finds that only a minority of patients are capable of achieving LDLc targets set by the European guidelines. About 25% of FH patients reach LDLc ≤100 mg/dL and only 8% of very high-risk CVD patients reach LDLc ≤70 mg/dL.
Importantly, those with high Lp(a) experienced twice as much CHD events than those with low Lp(a) levels. Specific drug development toward Lp(a) would be a breakthrough in helping patients with familial hypercholesterolemia.
A group of 714 FH adults were followed for about 11 years.
J. Clinical Lipidology
Current treatment goals for FH recommended by the European Atherosclerosis Society (EAS) are LDLc ≤100 mg/dL or ≤70 mg/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 (>18 years) subjects with FH.
57% were female. Mean age at last visit was 44 years, and the subjects had been followed at a lipid clinic for 11.1 years.
245 (34%) were classified as very-high-risk, and 44% of these had established CVD.
Very-high-risk FH subjects more often received:
Maximal statin dose (54% vs 33%, P < .001)
Ezetimibe (76% vs 48%, P < .001)
BAS (23% vs 9%, P < .001), and
Achieved LDLc was lower (124 vs 135 mg/dL, P = .003) than normal-risk FH.
LDLc 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: ≥90 mg/dL (n = 96) and <90 mg/dL (n = 503).
Despite similar lipid levels, BMI, smoking status, presence of diabetes, and blood pressure, prevalence of CHD 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 LDLv and other risk factors, high Lp(a) seem to be an important additional risk factor in genetically verified FH.