Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypoalphalipoproteinemia

Hypoalphalipoproteinemia is a dyslipidemia characterized by extremely low HDL levels. The condition is caused by mutations of the APOA1 and ABCA1 genes. The mode of inheritance can be either autosomal dominant or recessive. Patient show an increased cardiovascular risk.

Diagnosis

As in lipid electrophoresis HDL particles move in the alpha fraction, hypoalphalipoproteinemia is synonymous to low HDL dyslipedemia.

Systematic

Dyslipidemia
Apolipoprotein deficiency
Betalipoprotein deficiency
Epigenetic dyslipidemia
Hyperalphalipoproteinemia 1
Hyperalphalipoproteinemia 2
Hyperlipemia
Hypoalphalipoproteinemia
ABCA1
APOA1
Hypobetalipoproteinemia

References:

1.

Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

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2.

Marcil M et al. (1995) Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization.

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3.

Marcil M et al. (1999) Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.

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4.

Warnick GR et al. (1995) National Cholesterol Education Program recommendations for measurement of high-density lipoprotein cholesterol: executive summary. The National Cholesterol Education Program Working Group on Lipoprotein Measurement.

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Update: Sept. 26, 2018