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]