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GTR Home > Conditions/Phenotypes > Familial hypoalphalipoproteinemia

Familial hypoalphalipoproteinemia

Synonyms
FAMILIAL HDL DEFICIENCY; Hypoalphalipoproteinemia, primary

Summary

Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). Genetic Heterogeneity of Primary Hypoalphalipoproteinemia Primary hypoalphalipoproteinemia-2 (618463) and intermediate primary hypoalphalipoproteinemia-2 (619836) are caused by mutation in the APOA1 gene (107680) on chromosome 11q23. [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

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