Clinical presentation, laboratory values, and coronary heart disease risk in marked high-density lipoprotein-deficiency states

Our purpose is to provide a framework for diagnosing(I the inherited causes of marked high-density lipoprotein (HDL) deficiency (HDL cholesterol levels <10 mg/dL in the absence of severe hypertriglyceridemia or liver disease) and to provide information about coronary heart disease (CHD) risk for Such Cases. Published articles in the literature Oil severe HDL deficiencies were used as sources. If apolipoprotein (Apo) A-I is not present in plasma, then three forms of ApoA-I deficiency. all with premature CHD, and normal low-density lipoprotein (LDL) cholesterol levels have been described: ApoA-I/C-III/A-IV deficiency with Fat malabsorption. ApoA-I/C-III deficiency with planar xanthomas, and ApoA-I deficiency with planar and tubero-eruptive xanthomas (pictured in this review for the first time). If ApoA-I is present in plasma tit I concentration < 10 mg/dL with LDL cholesterol that is about 50% of normal and mild hypertriglyceridemia, I possible diagnosis is Tangier disease due 10 Mutations at the adenosine triphosphate binding cassette protein A1 (ABCA1) gene locus. These patients may develop premature CHD and peripheral neuropathy, and have evidence of cholesteryl ester-laden macrophages in in their liver, spleen, tonsils, and Schwann cells. as well is Other tissues. third form severe HDL deficiency is characterized by plasma ApoA-I levels <40 mg/dL, moderate hypertriglyceridemia, and decreased LDL cholesterol, and the finding that most of the cholesterol in plasma is in the free rather than the esterified form. due to a deficiency in lecithin:cholesterol acyltransferase activity. These patients have marked corneal opacification and splenomegaly. and tire at increased risk of developing renal failure. but have no clear evidence Of premature CHD. Marked HDL deficiency has different etiologies and is generally associated with early CHD risk. (C) 2008 National Lipid Association. All rights reserved.