Hyperalphalipoproteinemia 2 is an autosomal dominat disorder of lipid metabolism caused by mutations of the APOC3 gene. Biochemically, this disorder shows height HDL levels. A cardioprotective effect is assumed.
In general, probands with hyperalphalipoproteinemia are characterized by a lower-than-average risk of cardiovascular disease. In hyperalphalipoproteinemia 2, however, that effect seems to be not so prominent.
Lab tests show height HDL levels. Mutated APOC3 can be detected by isoelectric focusing (IEF) of very low density lipoprotein (VLDL). Some patients show low APOC3 levels. LDL particles may be low as well. Triglycerides are found lower than average, both fasting and postprandial.
Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.[^]
von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.[^]
OMIM.ORG articleOmim 614028 [^]