Contemporary lipid clinic and achievements in low-density lipoprotein-cholesterol reductions in very high-risk patients.

Introduction: Numerous studies have shown that lowering of low-density lipoprotein-cholesterol (LDL-C) reduces the risk of cardiovascular disease (CVD). To optimise treatment, some patients are referred to a lipid clinic. The reduction in LDL-C achieved in a lipid clinic in contemporary practice is, however, not well described.

Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.

Autosomal recessive hypercholesterolemia is a rare genetic disorder due to homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 gene (LDLRAP1), resulting in elevated low-density lipoprotein cholesterol (LDL-C) levels, large xanthomas, and increased cardiovascular risk. Here, we describe a Danish family of Syrian ancestry carrying a frameshift mutation in LDLRAP1, previously only described in Sardinia and Sicily in Italy and in Spain. In 2 children homozygous for this mutation, we evaluate the effect of long-term lipid-lowering treatment with atorvastatin as monotherapy or in combination with ezetimibe.

Prevalence of clinical familial hypercholesterolaemia among patients with high cholesterol levels.

Introduction: Familial hypercholesterolaemia (FH) can be diagnosed using clinical criteria or by direct mutation identification. The prevalence of clinical FH in Danish lipid clinics remains unknown. The objective of this study was to explore the prevalence of clinical FH in patients admitted on suspicion of FH with plasma low-density lipoprotein cholesterol (LDL-C) concentration ≥ 5.