+1 (502) 904-2126   One Westbrook Corporate Center, Suite 300, Westchester, IL 60154, USA   Site Map
ISSN: 2574 -1241

Impact Factor : 0.548

  Submit Manuscript

Mini ReviewOpen Access

Autosomal Recessive Hypercholesterolemia: A Rare Cause of Familial Hypercholesterolemia

Volume 1 - Issue 5

Constantine E Kosmas1*, Ian Martinez2, Rosmery Morcelo2, Wellington Fabian3, Peter D Montan2, Eliscer Guzman4

  • Author Information Open or Close
    • 1Department of Medicine, Division of Cardiology, USA
    • 2Cardiology Clinic, Cardiology Unlimited, USA
    • 3Medical Clinic, Michael Correa, USA
    • 4Department of Medicine, Division of Cardiology, USA

    *Corresponding author: Constantine E Kosmas, MD, PhD, 168-24 Powells Cove Blvd, Beechhurst, NY 11357, USA

Received: October 22, 2017;   Published: October 26, 2017

DOI: 10.26717/BJSTR.2017.01.000466

Full Text PDF

To view the Full Article   Peer-reviewed Article PDF


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.

Keywords : Autosomal Recessive Hypercholesterolemia; Familial Hypercholesterolemia; LDL-Cholesterol; LDL Receptor

Keywords : ARH: Autosomal Recessive Hypercholesterolemia; LDLRAP1: Low-Density Lipoprotein Receptor Adaptor Protein 1; HoFH: Homozygous Familial Hypercholesterolemia; LDL-C: Low-Density Lipoprotein Cholesterol; CVD: Cardiovascular Disease; ApoB: Apolipoprotein B; PCSK9: Proprotein Convertase Subtilisin/Kexin Type 9; FH: Familial Hypercholesterolemia; CAD: Coronary Artery Disease; VLDL: Very Low Density Lipoprotein

Abstract| Introduction| Genetics and Mechanism| Clinical Phenotype of Patients with ARH| Lipid-lowering therapy in patients with ARH| References|