Genetics of type III hyperlipoproteinemia

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Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
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G Feussner1, S Piesch, J Dobmeyer

  • 1Abteilung Innere Medizin I, Medizinische Universitätsklinik Heidelberg, Germany.

Genetic Epidemiology
|January 1, 1997
PubMed

Insights

Type III hyperlipoproteinemia (HLP) may stem from multiple genetic factors beyond apoE2. This study suggests additional genes contribute to HLP development in affected families, highlighting a multifactorial disease origin.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Cardiovascular Research

Background:

  • Type III hyperlipoproteinemia (HLP) is a primary lipoprotein disorder.
  • The apolipoprotein E (apoE) E2/2 phenotype is associated with HLP.
  • The genetic basis of HLP is not fully understood.

Purpose of the Study:

  • To investigate the occurrence of hyperlipidemia in relatives of HLP patients.
  • To identify potential additional genetic factors contributing to HLP.
  • To confirm and extend previous findings on the multifactorial genesis of HLP.

Main Methods:

  • Studied 147 relatives of 43 patients with classical type III HLP and apoE2/2 phenotype.
  • Analyzed pedigrees for prevalent dyslipidemia and genetic contributions.
  • This represents the largest family study for type III HLP to date.

Main Results:

  • Primary dyslipidemia was prevalent in 12 out of 43 pedigrees.
  • Genes for familial combined hyperlipidemia, familial hypertriglyceridemia, and familial hypercholesterolemia were suspected in these kindreds.
  • Confirmed multifactorial genesis of HLP.

Conclusions:

  • Homozygosity for apoE2 alone may not explain all cases of type III HLP.
  • Additional genes for familial lipoprotein disorders likely contribute to HLP pathogenesis.
  • HLP results from a complex interplay of genetic factors.

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