Marked HDL deficiency and premature coronary heart disease

Curr Opin Lipidol. 2010 Aug;21(4):289-97. doi: 10.1097/MOL.0b013e32833c1ef6.


Purpose of review: Our purpose is to review recent publications in the area of marked human HDL deficiency, HDL particles, coronary heart disease (CHD), amyloidosis, the immune response, and kidney disease.

Recent findings: Lack of detectable plasma apolipoprotein (apo) A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion. Such patients have marked HDL deficiency, normal levels of triglycerides and LDL cholesterol, and can have xanthomas and premature CHD. ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50-93 and 170-178, have been associated with amyloidosis. Patients with homozygous Tangier disease have defective cellular cholesterol efflux due to mutations in the adenosine triphosphate-binding cassette transporter A1, detectable plasma apoA-I levels and prebeta-1 HDL in their plasma. They have decreased LDL cholesterol levels and can develop neuropathy and premature CHD. Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure.

Summary: Patients with marked HDL deficiency can have great differences in their clinical phenotype depending on the underlying defect.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / metabolism
  • Amyloidosis / genetics
  • Amyloidosis / metabolism
  • Apolipoprotein A-I / deficiency
  • Apolipoprotein A-I / genetics
  • Base Sequence
  • Coronary Disease / complications
  • Coronary Disease / genetics
  • Coronary Disease / immunology
  • Coronary Disease / metabolism*
  • Humans
  • Lipoproteins, HDL / deficiency*
  • Phosphatidylcholine-Sterol O-Acyltransferase / metabolism


  • ATP-Binding Cassette Transporters
  • Apolipoprotein A-I
  • Lipoproteins, HDL
  • Phosphatidylcholine-Sterol O-Acyltransferase