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.
As in lipid electrophoresis HDL particles move in the alpha fraction, hypoalphalipoproteinemia is synonymous to low HDL dyslipedemia.
Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.[^]
Marcil M et al. (1995) Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization.[^]
Marcil M et al. (1999) Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.[^]
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.[^]
Orphanet articleOrphanet ID 31153 [^]
OMIM.ORG articleOmim 604091 [^]
Wikipedia articleWikipedia EN (Hypoalphalipoproteinemia) [^]