Update on Primary Hypobetalipoproteinemia

Rare Diseases and Lipid Metabolism (JAG López, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Rare Diseases and Lipid Metabolism


“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.


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

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Clinical Biochemistry, PathWest Laboratory Medicine WARoyal Perth HospitalPerthAustralia
  2. 2.School of Medicine & PharmacologyUniversity of Western AustraliaPerthAustralia
  3. 3.School of Pathology & Laboratory MedicineUniversity of Western AustraliaPerthAustralia

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