Autosomal Recessive Hypercholesterolemia: A Rare Cause of Familial Hypercholesterolemia by Constantine E Kosmas in BJSTR

Abstract

Autosomal recessive hypercholesterolemia (ARH) is a very rare genetic cause of hypercholesterolemia. ARH has been linked to mutations in the low-density lipoprotein receptor adaptor protein 1(LDLRAP1) with consequent disruption of the LDL receptor mediated endocytosis, leading to severe hypercholesterolemia. The clinical phenotype of ARH is milder than that of receptor negative homozygous familial hypercholesterolemia (HoFH) and resembles that of receptor-defective HoFH. However, There is a large phenotypic variability in ARH and some ARH patients have LDL-cholesterol levels not significantly different from those of patients with HoFH. The prevalence of coronary artery disease, although increased, tends be lower in ARH compared to HoFHand patients with ARH, as compared to those with HoFH, tend to respond better to lipid-lowering drugs. This review aims to summarize the mechanism, as well as the genetic and clinical characteristics of ARH.

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Autosomal Recessive Hypercholesterolemia: A Rare Cause of Familial Hypercholesterolemia by Constantine E Kosmas in BJSTR