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Hyperlipoproteinemia: An Overview

Hyperlipoproteinemia is a common disorder. It results from an inability to break down lipids or fats in your body, specifically cholesterol and triglycerides. There are several types of hyperlipoproteinemia medical conditions. The type depends on the concentration of lipids and which are affected.

Synonym

Familial Hyperlipoproteinemia (see Table H-6).

TABLE H-6Familial Hyperlipoproteinemia: An Overview
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TABLE H-6 Familial Hyperlipoproteinemia: An Overview
Type Synonyms and Inclusions Pathophysiology Inheritance Genetic
Lp Apolipoprotein(a); LPA Allelic serum lipoprotein system Autosomal dominant Mutations in apolipoprotein Lp(a) gene; 6q27
Ia Familial hyperchylomicronemia Lipoprotein lipase deficiency Autosomal recessive 8p22
Ib APOC2 deficiency; Apolipoprotein C-II deficiency Apolipoprotein C-II deficiency Autosomal recessive 19q13.2
Ic Chylomicronemia Lipoprotein lipase inhibitor activity Autosomal dominant  
II Hyperbetalipoproteinemia; familial hypercholesterolemic xanthomatosis; hyper-low-density-lipoproteinemia Defect of the cell membrane receptor for LDL Autosomal dominant Mutations in LDL receptor gene; probably 19p13.2-p13.12
IIa Familial hypercholesterolemia without hypertriglyceridemia Defect of the cell membrane receptor for LDL Autosomal dominant Mutations in LDL receptor gene; probably 19p13.2-p13.12
IIb Familial hypercholesterolemia with hypertriglyceridemia Defect of the cell membrane receptor for LDL Autosomal dominant Mutations in LDL receptor gene; probably 19p13.2-p13.12
III Apolipoprotein E deficiency; broad-betalipoproteinemia; familial hypercholesterolemia with hyperlipemia; hyperbetaproteinemia and prebetalipoproteinemia; hyperlipemia with familial floating-betalipoproteinemia; familial hypercholesterolemic xanthomatosis Apolipoprotein E deficiency Autosomal recessive with pseudodominance due to high gene frequency 19q13.2
IV Carbohydrate-inducible hyperlipemia; endogenous hypertriglyceridemia; familial combined hyperlipidemia; hypercholesterolemia type IV; hyperprebetalipoproteinemia Heterogeneous with strong influence of environmental factors Autosomal dominant, heterogeneous  
Norum disease Lecithin-cholesterol acyltransferase deficiency; LCAT deficiency Lecithin-cholesterol acyltransferase deficiency Autosomal recessive 16q22.1
Wolman disease Lysosomal acid lipase deficiency; LAL deficiency; LIPA deficiency; cholesterol ester storage disease (CESD) Lysosomal acid lipase deficiency (acid cholesteryl ester hydrolase deficiency) Autosomal recessive 10q24-q25
Familial hypertriglyceridemia   Apolipoprotein C-II deficiency Autosomal dominant 15q11.2-q13.1
Familial hypercholesterolemia Type B Familial hypercholesterolemia due to ligand-defective apolipoprotein B; familial ligand-defective apolipoprotein B-100 Abnormal LDL Autosomal dominant 2p24
Hyperalphalipoproteinemia   Elevated levels of α-lipoprotein (as in Tangier disease) Probably autosomal dominant Chromosome 1? (APOA2 gene)

LDL, low-density lipoprotein.

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