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Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein
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Familial hypoalphalipoproteinemias.

J Frohlich1, J Westerlund, D Sparks

  • 1University Hospital Lipid Research Group, Department of Pathology, University of British Columbia, Vancouver.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|August 1, 1990
PubMed
Summary

Familial hypoalphalipoproteinemias involve very low high-density lipoprotein (HDL) levels. Some forms, unlike Familial Isolated Hypoalphalipoproteinemia, do not increase atherosclerosis risk, suggesting a protective HDL subfraction.

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Published on: January 28, 2021

Area of Science:

  • Lipidology
  • Genetics
  • Cardiovascular Disease

Background:

  • Familial hypoalphalipoproteinemias are rare genetic disorders defined by extremely low plasma high-density lipoprotein (HDL) levels.
  • These conditions often exhibit distinct clinical and laboratory findings, with most cases showing autosomal recessive inheritance patterns.

Purpose of the Study:

  • To explore the heterogeneity of familial hypoalphalipoproteinemias, focusing on their association with atherosclerosis.
  • To differentiate conditions with low HDL but no premature atherosclerosis from those that do, such as Familial Isolated Hypoalphalipoproteinemia.

Main Methods:

  • Review of existing literature on familial hypoalphalipoproteinemias and associated clinical outcomes.
  • Analysis of genetic defects and metabolic pathways implicated in HDL metabolism and cholesterol transport.

Main Results:

  • Many familial hypoalphalipoproteinemias, including Tangier disease and lecithin: cholesterol acyltransferase deficiency, are not linked to premature atherosclerosis despite low HDL.
  • Familial Isolated Hypoalphalipoproteinemia is uniquely associated with premature atherosclerosis, though its prevalence and etiology remain unknown.
  • Defects in apo A-I synthesis cause some specific deficiencies, but the cause of low HDL in other familial hypoalphalipoproteinemias is unclear, with proposed mechanisms including increased catabolism or altered equilibration.

Conclusions:

  • The protective role of HDL against atherosclerosis may depend on specific, metabolically active subfractions rather than total HDL levels.
  • Understanding the diverse etiologies and clinical implications of familial hypoalphalipoproteinemias is crucial for risk stratification and management.