Hypoalphalipoproteinemia, primary, 2

Primary hypoalphalipoproteinemia-2 characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C), is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). Primary hypoalphalipoproteinemia-2 characterized by half the normal plasma apoA-I and HDL-C levels is inherited as an autosomal dominant trait (Yamakawa-Kobayashi et al., 1999). Heterozygous individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (Rader and deGoma, 2012). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091.

OMIM