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Familial combined hyperlipidemia and abnormal lipoprotein lipase
S P Babirak1, B G Brown, J D Brunzell
1Division of Metabolism, Endocrinology, and Nutrition, University of Washington, Seattle 98195.
Arteriosclerosis and Thrombosis : a Journal of Vascular Biology
|October 1, 1992
Summary
Reduced lipoprotein lipase (LPL) activity was found in 36% of familial combined hyperlipidemia (FCHL) patients, suggesting a subset of FCHL may be linked to LPL deficiency and associated lipoprotein abnormalities.
Area of Science:
- Cardiovascular Medicine
- Metabolic Disorders
- Lipid Metabolism
Background:
- Familial combined hyperlipidemia (FCHL) is a common dyslipidemia.
- Previous research suggests a link between reduced lipoprotein lipase (LPL) and FCHL.
- Heterozygotes for LPL deficiency exhibit FCHL, elevated apoB, and reduced HDL.
Purpose of the Study:
- To investigate whether a subset of FCHL patients exhibit reduced LPL activity.
- To identify potential LPL abnormalities within the FCHL population.
Main Methods:
- Studied three FCHL patient groups: established diagnosis (n=9), clinic patients (n=14), and CAD patients (n=33).
- Assessed LPL activity in all FCHL subjects.
- Compared lipid profiles (triglycerides, HDL cholesterol) between FCHL patients with reduced vs. normal LPL activity.
Main Results:
- Reduced LPL activity was identified in 20 out of 56 (36%) FCHL patients across all groups.
- FCHL patients with reduced LPL showed significantly higher triglyceride levels (p < 0.01).
- FCHL patients with reduced LPL exhibited significantly lower HDL cholesterol levels (p < 0.025).
Conclusions:
- A significant subset of FCHL patients demonstrates reduced LPL activity.
- Reduced LPL activity is associated with characteristic lipoprotein abnormalities in FCHL.
- Identifying this LPL-deficient subset may refine FCHL diagnosis and management.