Advertisement

Familial Hepatic Lipase Deficiency

  • J. Alick Little
  • Philip W. Connelly
Chapter
Part of the Advances in Experimetal Medicine and Biology book series (AEMB, volume 201)

Abstract

We have described a kindred with familial hepatic lipase (HL) deficiency [1]. The proband presented with marked hyperlipoproteinemia and β-VLDL and was originally thought to have Type III hyperlipoproteinemia. However, he was investigated further because of an unusually high proportion of triglyceride in low density and high density lipoproteins and a slightly reduced post-heparin lipolytic activity. Subsequently he, his brother and other family members were discovered to have a marked reduction in hepatic lipase, with gross changes in plasma lipoprotein composition and premature vascular disease. Characterization of the lipoprotein abnormalities has allowed us to evaluate the role of HL in human lipoprotein metabolism and to make inferences about the relationships between the composition of their lipoproteins and atherogenicity.

Keywords

Hepatic Lipase Cholesterol Acyltransferase Unesterified Cholesterol Lipoprotein Abnormality Hepatic Lipase Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Breckenridge, W.C., J.A. Little, P. Alaupovic, C.S. Wang, A. Kuksis, G. Kakis, F. Lindgren and G. Gardiner (1982) Atherosclerosis 45:161.PubMedCrossRefGoogle Scholar
  2. 2.
    Krauss, R.M., R.I Levy and D.S. Fredrickson (1974) J. Clin. Invest. 54:1107.PubMedCrossRefGoogle Scholar
  3. 3.
    Shen, B.W., A.M. Scanu and F.J. Kezdy (1977) Proc. Natl. Acad. Sci.(USA) 74:837.CrossRefGoogle Scholar
  4. 4.
    Jackson, R.L. (1983) in “The Enzymes” Vol. XVI (Academic Press) pp. 141-181.Google Scholar
  5. 5.
    Kuusi, T., P.K.J. Kinnunen and E.A. Nikkila (1979) FEBS Lett. 104:384.PubMedCrossRefGoogle Scholar
  6. 6.
    Jansen, H., A. Van Toi and W.C. Hulsmann (1980) Biochem. Biophys. Res. Comm. 92:53.PubMedCrossRefGoogle Scholar
  7. 7.
    Goldberg, I.J., N.A. Le, J.R. Paterniti, Jr., H.N. Ginsberg, F.T. Lindgren and W.V. Brown (1982) J. Clin. Invest. 50:1184.CrossRefGoogle Scholar
  8. 8.
    Murase, T. and H. Itakura (1981) Atherosclerosis 39:293.PubMedCrossRefGoogle Scholar
  9. 9.
    Jansen, H. and W.C. Hulsmann (1985) Biochem. Soc. Trans. 13:24PubMedGoogle Scholar
  10. 10.
    Patsch, J.R., S. Prasad, A.M. Gotto, Jr. and G. Bengtsson-Olivecrona (1984) J. Clin. Invest. 74:2017.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1986

Authors and Affiliations

  • J. Alick Little
    • 1
  • Philip W. Connelly
    • 1
  1. 1.Lipid Research ClinicUniversity of TorontoTorontoCanada

Personalised recommendations