Comparison of Lipoprotein Electrophoresis and Apolipoprotein E Genotyping in Investigating Dysbetalipoproteinemia

J Coll Physicians Surg Pak. 2017 Jun;27(6):378-379.

Abstract

Dysbetalipoproteinemia is often associated with apolipoprotein E2E2 homozygosity; however, lipoprotein electrophoresis may also be used to assist in the diagnosis. The aim of this study was to compare apolipoprotein E (apo E) genotyping and lipoprotein electrophoresis in investigating dysbetalipoproteinemia. Data were collected over a three-year period from a lipid clinic in a tertiary referral centre and reviewed for apo E genotyping and lipoprotein electrophoresis. Sixty-two patients had both apo E genotyping and lipoprotein electrophoresis. Of these, 16 patients showed broad beta band on electrophoresis. However, only 3 of them had apo E2E2 homozygosity on genotyping. Lipoprotein electrophoresis and apo E genotyping results showed poor concordance. This was primarily due to visual interpretation error of lipoprotein electrophoresis which may over diagnose dysbetalipoproteinemia.

Publication types

  • Comparative Study

MeSH terms

  • Apolipoproteins E / blood
  • Apolipoproteins E / genetics
  • Electrophoresis / methods*
  • Female
  • Genotype
  • Humans
  • Hyperlipoproteinemia Type III / diagnosis*
  • Lipoproteins / blood
  • Lipoproteins / genetics
  • Male
  • Phenotype
  • Retrospective Studies

Substances

  • Apolipoproteins E
  • Lipoproteins