Rare Diseases and Lipid Metabolism (JAG López, Section Editor)

Current Atherosclerosis Reports

, 16:423

First online:

Update on Primary Hypobetalipoproteinemia

  • Amanda J. HooperAffiliated withDepartment of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth HospitalSchool of Medicine & Pharmacology, University of Western AustraliaSchool of Pathology & Laboratory Medicine, University of Western Australia
  • , John R. BurnettAffiliated withDepartment of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth HospitalSchool of Medicine & Pharmacology, University of Western Australia Email author 

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Abstract

“Primary hypobetalipoproteinemia” refers to an eclectic group of inherited lipoprotein disorders characterized by low concentrations of or absence of low-density lipoprotein cholesterol and apolipoprotein B in plasma. Abetalipoproteinemia and homozygous familial hypobetalipoproteinemia, although caused by mutations in different genes, are clinically indistinguishable. A framework for the clinical follow-up and management of these two disorders has been proposed recently, focusing on monitoring of growth in children and preventing complications by providing specialized dietary advice and fat-soluble vitamin therapeutic regimens. Other recent publications on familial combined hypolipidemia suggest that although a reduction of angiopoietin-like 3 activity may improve insulin sensitivity, complete deficiency also reduces serum cholesterol efflux capacity and increases the risk of early vascular atherosclerotic changes, despite low low-density lipoprotein cholesterol levels. Specialist laboratories offer exon-by-exon sequence analysis for the molecular diagnosis of primary hypobetalipoproteinemia. In the future, massively parallel sequencing of panels of genes involved in dyslipidemia may play a greater role in the diagnosis of these conditions.

Keywords

Abetalipoproteinemia Apolipoprotein B Chylomicron retention disease Combined hypolipidemia Familial hypobetalipoproteinemia Hypobetalipoproteinemia Low-density lipoprotein