Unter Dyslipidämie werden alle Störungen der Konzentration und Verteilung der Lipide im peripheren Blut zusammengefasst.
Differentialdiagnostisch sind primäre Formen von solchen Erkrankungen abzugrenzen, bei denen die Dyslipämie nur ein Begleitsymptom schwerer allgemeiner Stoffwechselstörungen darstellt. Sowohl promäre als auch sekundäre Dyslipämien können genetisch bedingt sein.
Während die sekundären Störungen oft ein gemischtes biochemisches Bild bieten, lassen sich primäre Störungen oft mit der klinischen Chemie weiter differenzieren. Dabei hängen die verschiedenen Klassifikationen sehr von den verfügbaren Bestimmungsmethoden ab. So ist eine relativ einfache und in der Praxis häufig auch schon ausreichende Klassifikation anhand der Triglyceride und des Cholesterins und der ggf. auch vorhandenen Chylomikronen möglich. Eine Subtilere Differenzierung ermöglicht die Bestimmung der einzelnen Lipoproteinfraktionen. Eine solche Bestimmung ist dann oft auch sinnfoll bei der gezielten Suche nach den zugrundeliegnden Gendefekten.
Die Diagnose von Dyslipidämien kann oft relativ einfacht durch Blutteste gestellt werden. Wenngleich bei einigen seltenen Formen die alleinige Bestimmung von Cholesterol und Triglyceriden in die Irre führen kann. Eine sichere Diagnose erfordert deshalb immer eine Bestimmung der Lipoproteinfraktionen. Obwohl die Diagnose recht einfach zu stellen ist erfordert die Einteilung und die pathogenetische Abklärung oft einen erheblichen Aufwand.
1. |
Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. |
2. |
Wojciechowski AP et al. (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24. |
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. |
4. |
Rauh G et al. (1990) Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia. |
5. |
Ito Y et al. (1990) Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. |
6. |
Babirak SP et al. () Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. |
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. |
8. |
Rose HG et al. (1973) Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. |
9. |
Kissebah AH et al. () Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression. |
10. |
Chait A et al. (1983) Severe hypertriglyceridemia: role of familial and acquired disorders. |
12. |
Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. |
13. |
Rotter JI et al. (1996) Multilocus genetic determinants of LDL particle size in coronary artery disease families. |
14. |
Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. |
15. |
Masucci-Magoulas L et al. (1997) A mouse model with features of familial combined hyperlipidemia. |
16. |
Bredie SJ et al. (1997) Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity. |
17. |
Wijsman EM et al. (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. |
18. |
Pajukanta P et al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. |
19. |
Castellani LW et al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. |
20. |
Altshuler D et al. (1998) Genetic polymorphisms and disease. |
21. |
Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. |
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. |
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. |
24. |
Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. |
25. |
Pollin TI et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. |
26. |
von Eckardstein A et al. (1991) Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. |
27. |
Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. |
28. |
Pajukanta P et al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). |
30. |
Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. |
31. |
Marcil M et al. (1995) Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. |
32. |
Marcil M et al. (1999) Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. |
33. |
Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. |
34. |
Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. |
35. |
Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. |
36. |
Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. |
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. |
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. |
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. |
40. |
Aouizerat BE et al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. |
41. |
Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. |
42. |
Bodnar JS et al. (2002) Positional cloning of the combined hyperlipidemia gene Hyplip1. |
43. |
Brunzell JD et al. (1976) Myocardial infarction in the familial forms of hypertriglyceridemia. |
44. |
van der Vleuten GM et al. (2004) Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia. |
45. |
Orphanet article Orphanet ID 412 |