Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperalphalipoproteinemia 2

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.

Clinical Findings

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.

Diagnosis

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.

Systematic

Dyslipidemia
Apolipoprotein deficiency
Betalipoprotein deficiency
Epigenetic dyslipidemia
Hyperalphalipoproteinemia 1
Hyperalphalipoproteinemia 2
APOC3
Hyperlipemia
Hypoalphalipoproteinemia
Hypobetalipoproteinemia

References:

1.

Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

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2.

von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.

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3.

OMIM.ORG article

Omim 614028 [^]
Update: April 29, 2019