Apolipoprotein E phenotypes in hyperlipidaemic patients and their implications for treatment

Atherosclerosis. 1985 Nov;57(2-3):249-66. doi: 10.1016/0021-9150(85)90038-3.


Apolipoprotein E phenotypes were determined on 417 consecutive lipid clinic patients using an isoelectric focussing technique. Of the 15 patients with phenotype E2/2, 13 (3.1%) had type III hyperlipoproteinaemia and 2 obese identical twins had type V. A further 20 patients (4.8%) had similar plasma and lipoprotein lipid levels but were E2 heterozygotes (14 E3/2 and 6 E4/2). They displayed a widened pre-beta-band almost confluent with the beta-band rather than the broad beta-band shown in classical E2/2 type III patients. In view of the similarities between these heterozygotes and the classical homozygous (E2/2) type III patients and their occurrence in the same families we suggest the nomenclature homozygous and heterozygous type III. In a subsequent comparison between 30 E2/2, 22 E3/2 and 8 E4/2 type III individuals the only significant difference in plasma and lipoprotein lipid parameters was a lower VLDL cholesterol to triglyceride ratio of 0.85 in E3/2 patients than that of 1.24 in E2/2 patients (P less than 0.01). Both homozygous and heterozygous patients showed premature ischaemic heart disease and both responded dramatically and similarly to treatment with clofibrate. These observations indicate that apo E phenotyping is worthwhile in all patients with combined hyperlipidaemia and that homozygous and heterozygous type III hyperlipoproteinaemia is not uncommon.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Apolipoproteins E / blood
  • Apolipoproteins E / genetics*
  • Cholesterol / blood
  • Cholesterol, VLDL
  • Clofibrate / therapeutic use
  • Diseases in Twins
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Hyperlipidemias / blood
  • Hyperlipidemias / drug therapy
  • Hyperlipidemias / genetics*
  • Hyperlipoproteinemia Type III / blood
  • Hyperlipoproteinemia Type III / drug therapy
  • Hyperlipoproteinemia Type III / genetics
  • Hyperlipoproteinemia Type V / blood
  • Hyperlipoproteinemia Type V / drug therapy
  • Hyperlipoproteinemia Type V / genetics
  • Isoelectric Focusing
  • Lipoproteins / blood
  • Lipoproteins, VLDL / blood
  • Male
  • Middle Aged
  • Twins, Monozygotic


  • Apolipoproteins E
  • Cholesterol, VLDL
  • Lipoproteins
  • Lipoproteins, VLDL
  • Cholesterol
  • Clofibrate