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Dyslipidemia

Dyslipidemias are all disturbances of plasma lipid concentration and distribution.

Classification

Primary forms of dyslipidemia can be distinguished from secondary forms that result from metabolic disturbances. Both primary and secondary forms can have a genetic background.

Biochemically secondary forms are mostly mixed lipid disorders affecting both triglycerides and cholesterol. By contrast, primary diaorders can be well distinguished biochemically. Depending on the tests applied two different classifications ensue. Based on triglycerides and holesterol and occasionally chylomicrons, a more simple and clinically often sufficient classification is proposed. An other more subtile classification requires measuring all lipoprotein fractions separately. The latter classification allows better prediction which genes might be mutated.

Diagnosis

Dyslipidemias are easily detected by blood tests. Sometimes more subtile disturbances escape detection by simple cholesterol and triglycerides measurements, so often a test of lipoprotein fractions is required. Though detection is quite simple, classification and pathogenetic diagnosis is more complex and requires to consider a wide spectrum of diferentials.

Systematic

Hereditary lipid disorders
Attenuated cholesterol lowering by statins
Disorders of mRNA editing
Disturbances of body fat distribution
Disturbed regulators of lipid and carbohydrate metabolism
Dyslipidemia
Apolipoprotein deficiency
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1 deficiency
APOA1
Apolipoprotein A2 deficiency
APOA2
Apolipoprotein F deficiency
APOF
Apolipoprotein H deficiency
APOH
CLU
Betalipoprotein deficiency
Abetalipoproteinemia
MTTP
Hypobetalipoproteinemia
ANGPTL3
APOB
Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1
Hyperalphalipoproteinemia 1
CETP
Hyperalphalipoproteinemia 2
APOC3
Hyperlipemia
Chylomicronemia
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomicron retention disease
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B
Familial combined Hyperlipemia
Combined familial hyperlipidemia with VLDL overproduction
APOE
GCKR
OSBPL10
USF1
Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Combined familial hyperlipidemia with dysfunctional LDL clearance
ATF6
LDLR
PCSK9
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1
Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
LDLR
Autosomal dominant hypercholesterolemia 2
APOB
Autosomal dominant hypercholesterolemia 3
PCSK9
Autosomal recessive hypercholesterolemia
LDLRAP1
Low density lipoprotein cholesterol level quantitative trait locus
HMGCR
Lp(a) hyperlipoproteinemia
LPA
Hypertriglyceridemia
APOA5
APOE
Combined lipase deficiency
LMF1
GPIHBP1
LIPC
LIPE
LPL
Plasma triglyceride level quantitative trait locus
ANGPTL4
Transient infantile hypertriglyceridemia
GPD1
Lysosomal acid lipase deficiency
LIPA
Hypoalphalipoproteinemia
ABCA1
APOA1
Hypobetalipoproteinemia
ANGPTL3
APOB
Hepatic CPT-deficiency type 1A
Neutral lipid storage disease
Sea-blue histiocyte disease
Statin intolerance
Tangier Disease

References:

1.

Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia.

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2.

Wojciechowski AP et al. (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24.

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3.

Nishina PM et al. (1992) Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19.

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4.

Rauh G et al. (1990) Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia.

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5.

Ito Y et al. (1990) Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice.

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6.

Babirak SP et al. () Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.

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7.

None (1989) Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs.

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8.

Rose HG et al. (1973) Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype.

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9.

Kissebah AH et al. () Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression.

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10.

Chait A et al. (1983) Severe hypertriglyceridemia: role of familial and acquired disorders.

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11.

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.

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12.

Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

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13.

Rotter JI et al. (1996) Multilocus genetic determinants of LDL particle size in coronary artery disease families.

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14.

Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia.

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15.

Masucci-Magoulas L et al. (1997) A mouse model with features of familial combined hyperlipidemia.

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16.

Bredie SJ et al. (1997) Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity.

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17.

Wijsman EM et al. (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex.

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18.

Pajukanta P et al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23.

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19.

Castellani LW et al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain.

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20.

Altshuler D et al. (1998) Genetic polymorphisms and disease.

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21.

Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia.

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22.

Allayee H et al. (1998) Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype.

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23.

Pajukanta P et al. (2003) Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q.

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24.

Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.

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25.

Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

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26.

von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.

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27.

Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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28.

Pajukanta P et al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

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29.

Putt W et al. (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

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30.

Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

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31.

Marcil M et al. (1995) Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization.

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32.

Marcil M et al. (1999) Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.

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33.

Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

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34.

Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

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35.

Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

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36.

Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

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37.

Sherva R et al. (2007) Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families.

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38.

Goldstein JL et al. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.

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39.

Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.

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40.

Aouizerat BE et al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11.

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41.

Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia.

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42.

Bodnar JS et al. (2002) Positional cloning of the combined hyperlipidemia gene Hyplip1.

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43.

Brunzell JD et al. (1976) Myocardial infarction in the familial forms of hypertriglyceridemia.

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44.

van der Vleuten GM et al. (2004) Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia.

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45.

Orphanet article

Orphanet ID 412 external link
46.

Wikipedia article

Wikipedia EN (Dyslipidemia) external link
Update: Aug. 14, 2020
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