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A rare disorder of lipoprotein metabolism, biochemically characterized by complete or partial apoA-I deficiency and mild to severe reduction of serum high-density lipoprotein cholesterol (HDL-C ). Severe hypoalphalipoproteinemia characterized by undetectable levels of apoA-I is an autosomal recessive condition, generally associated with markedly increased atherosclerotic cardiovascular disease, xanthomas and corneal opacities. Mild hypoalphalipoproteinemia characterized by half the normal plasma apoA-I and HDL-C levels is inherited as an autosomal dominant trait, may be associated with xanthomas and corneal opacities, but most patients do not have increased cardiovascular risk.




Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding


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