Review Clinical, Biochemical, and Genetic Features in Familial Disorders of High Density Lipoprotein Deficiency

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 hypertrlgiycerldemia or lecithin/cholesterol acyltransferase deficiency. Specific entities falling within this category Include Tangier disease, familial HDL deficiency with planar xanthomas, familial apollpoprotein A-l and C-lll deficiency (formerly known as apollpoproteln A-l absence), familial deficiency of apollpoproteln A-l and C-lll, fish-eye disease, familial hypoalphallpoprotelnemla, and apollpoproteln A-l variants (apo A-lMMtno, apo A-lm,^,,, apo A-lGlraMfl, and apo A-lMunttsr 1_3). Diffuse corneal opaciflcatlon 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 apollpoproteln A-l 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-l. 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. (Arteriosclerosis 4:303-322, July/August 1984)