title: Marked HDL deficiency and premature coronary heart disease.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Patients with marked HDL deficiency can have great differences in their clinical phenotype depending on the underlying defect.
authors.affiliation: Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Tufts University School of Medicine, Boston, Massachusetts 02111, USA. ernst.schaefer@tufts.edu
authors.forename: Ernst J
authors.initials: EJ
authors.lastname: Schaefer
authors.forename: Raul D
authors.initials: RD
authors.lastname: Santos
authors.forename: Bela F
authors.initials: BF
authors.lastname: Asztalos
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000378:metabolism; D000686:Amyloidosis / Q000235:genetics / Q000378:metabolism; D016632:Apolipoprotein A-I / Q000172:deficiency / Q000235:genetics; D001483:Base Sequence; D003327:Coronary Disease / Q000150:complications / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D006801:Humans; D008075:Lipoproteins, HDL / Q000172:deficiency*; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000378:metabolism
chemical_list: D018528:ATP-Binding Cassette Transporters; D016632:Apolipoprotein A-I; D008075:Lipoproteins, HDL; D007862:Phosphatidylcholine-Sterol O-Acyltransferase