What are the primary or familial causes of low HDL cholesterol (hypoalphalipoproteinemia)?

Updated: May 21, 2021
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Familial or primary causes - Decreased or absent synthesis of apo A-I due to a gene defect is the cause of apo A-I/apo C-III and apo A-I/apo C-III/apo A-IV deficiency. However, the etiology of the low levels of HDL is unclear for most of the remaining familial HAs. Increased catabolism, decreased synthesis, and altered equilibration of HDL between intravascular and extravascular spaces have all been suggested as underlying causes of low plasma HDL levels. Whatever the cause, these disorders are associated with altered HDL composition and altered equilibration of cholesterol, among the various lipoprotein classes.

  • Familial apo A-I deficiency and structural mutations

  • Familial lecithin-cholesterol acetyltransferase (LCAT) deficiency

  • Tangier disease

  • Miscellaneous

    • Familial HDL deficiency

    • Familial apo A-I and apo C-III deficiency (formerly known as apo A-I absence)

    • Familial deficiency of apo A-I and apo C-III

    • Fish eye disease (partial LCAT deficiency)

    • Familial HA

    • Apo A-I variants (apo A-I Milano, apo A-I Marburg, apo A-I Giessen, apo A-I Munster)

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