title: Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.
abstract: This review assesses current knowledge of the clinical, genetic, and biochemical features of familial high density lipoprotein (HDL) deficiency syndromes. The focus is on HDL deficiency states occurring in the absence of severe hypertriglyceridemia or lecithin/cholesterol acyltransferase deficiency. Specific entities falling within this category include Tangier disease, familial HDL deficiency with planar xanthomas, familial apolipoprotein A-I and C-III deficiency (formerly known as apolipoprotein A-I absence), familial deficiency of apolipoprotein A-I and C-III, fish-eye disease, familial hypoalphalipoproteinemia, and apolipoprotein A-I variants (apo A-I Milano, apo A-I Marburg, apo A-I Giessen, and apo A-I Munster 1-3). Diffuse corneal opacification and premature coronary artery disease are common features in many of these kindreds. No striking clinical abnormalities have been noted in patients with currently known apolipoprotein A-I variants, possibly because these subjects are heterozygotes for their respective defects. The HDL deficiency in many of these disorders has been associated with abnormalities or deficiencies of apolipoprotein A-I. Further research will undoubtedly define the defects in all the disorders that have been described, uncover new mutations, as well as provide additional insights into the precise relationship between HDL deficiency and atherosclerosis.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016632:Apolipoprotein A-I; D053305:Apolipoprotein C-III; D001053:Apolipoproteins / Q000097:blood; D001056:Apolipoproteins C; D002648:Child; D002675:Child, Preschool; D003318:Corneal Opacity / Q000097:blood / Q000209:etiology / Q000473:pathology; D003327:Coronary Disease / Q000097:blood / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008075:Lipoproteins, HDL / Q000097:blood*; D008297:Male; D008875:Middle Aged; D009852:Omentum / Q000473:pathology; D013631:Tangier Disease / Q000097:blood / Q000150:complications / Q000235:genetics / Q000473:pathology; D014973:Xanthomatosis / Q000097:blood / Q000209:etiology / Q000473:pathology
chemical_list: D016632:Apolipoprotein A-I; D053305:Apolipoprotein C-III; D001053:Apolipoproteins; D001056:Apolipoproteins C; D008055:Lipids; D008074:Lipoproteins; D008075:Lipoproteins, HDL