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Determinants of low HDL levels in familial combined hyperlipidemia

Aino Soro1, Matti Jauhiainen, Christian Ehnholm

  • 1Department of Medicine, University of Helsinki, Finland.

Journal of Lipid Research
|June 5, 2003
PubMed

Insights

Familial combined hyperlipidemia (FCHL) is linked to lower HDL cholesterol. Higher hepatic lipase (HL) activity and triglyceride enrichment of HDL particles contribute to reduced HDL2 cholesterol levels in affected individuals.

Area of Science:

  • Lipid metabolism
  • Cardiovascular genetics

Background:

  • Familial combined hyperlipidemia (FCHL) is characterized by elevated total cholesterol and/or triglycerides (TGs) and reduced HDL cholesterol.
  • Understanding the determinants of HDL cholesterol in FCHL is crucial for managing cardiovascular risk.

Purpose of the Study:

  • To investigate the role of key enzymes in regulating HDL cholesterol levels in FCHL.
  • To identify specific factors contributing to reduced HDL cholesterol in affected family members.

Main Methods:

  • Measured postheparin plasma activities of hepatic lipase (HL), lipoprotein lipase, cholesterol ester transfer protein, and phospholipid transfer protein (PLTP).
  • Analyzed lipid and apolipoprotein levels in 228 subjects from 49 FCHL families (affected, unaffected, and spouses).
  • Utilized univariate correlation and multivariate regression analyses.

Main Results:

  • Affected family members showed significantly lower levels of HDL cholesterol, HDL2 cholesterol, HDL3 cholesterol, and apolipoprotein A-I compared to unaffected relatives and spouses.
  • A marked reduction (25.4%) in HDL2 cholesterol was observed in affected individuals.
  • Affected individuals exhibited higher hepatic lipase (HL) activity and phospholipid transfer protein (PLTP) activity.
  • HL activity was strongly negatively correlated with HDL2 cholesterol levels.

Conclusions:

  • Elevated hepatic lipase (HL) activity and triglyceride enrichment of HDL particles are key factors contributing to reduced HDL cholesterol and HDL2 cholesterol in FCHL.
  • Gender, HL activity, TG levels, and body mass index independently influence HDL2 cholesterol levels.

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