Familial combined hyperlipidemia: Controversial aspects of its diagnosis and pathogenesis

Seminars in Vascular Medicine

Volumn 4, Issue 2, 2004, Pages 203-209

  Aguilar Salinas, Carlos A ^a,b   Zamora, Margarita ^b   Gómaz Díaz, Rita A ^b   Mehta, Roopa ^b   Gómez Pérez, Francisco J ^b   Rull, Juan A ^b  

^a Inst Nac de Cie Medicas Y Nutr ^*  (Mexico)

^b INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

Author keywords

Apolipoprotein B; Cholesterol; Familial combined hyperlipidemia; HDL cholesterol; Triglycerides

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ATHEROGENESIS; BINDING AFFINITY; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHOLESTEROL METABOLISM; ENZYME ACTIVITY; FAMILIAL DISEASE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HYPERLIPIDEMIA; INSULIN SENSITIVITY; KINETICS; MORTALITY; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PREVALENCE; PROSPECTIVE STUDY; REVIEW; RISK ASSESSMENT;

APOLIPOPROTEINS B; CARDIOVASCULAR DISEASES; CHOLESTEROL, HDL; COMORBIDITY; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; TRIGLYCERIDES;

EID: 7244219945     PISSN: 15289648     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-835379     Document Type: Review

References (46)

1. Davignon J, Genest J Jr. Genetics of lipoprotein disorders. Endocrinol Metab Clin North Am 1998;27:521-550
2. Arner P. Is familial combined hyperlipidaemia a genetic disorder of adipose tissue? Curr Opin Lipidol 1997;8:89-94
3. Bredie SJ, Demacker PN, Stalenhoef AF. 1997. Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity. Eur J Clin Invest 1997;27:802-811
4. Goldstein JL, Schrott HG, Hazzard WT, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II: genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 1973;52:1544-1568
5. Rose HG, Kranz P, Weinstock M, Juliano J, Haft JI. Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. Am J Med 1973;54:148-160
6. Nikkila EA, Aro A. Family study of serum lipids and lipoproteins in coronary heratheart disease. Lancet 1973;1:954-959
7. Erkelens DW. Metabolic basis for tiypertriglyceridaemia in familial combined hyperlipidaemia. Eur Heart J 1998;19(suppl H):H23-H26
8. Grundy SM, Chait A, Brunzell JD. Familial Combined Hyperlipidemia Workshop. Arteriosclerosis 1987;7:203-207
9. Sniderman AD, Ribalta J, Castro Cabezas M. How should FCHL be defined and how should we think about its metabolic bases? Nutr Metab Cardiovasc Dis 2001;11:259-273
10. Sniderman AD, Castro-Cabezas M, Riblata J, et al. A proposal to redefine familial combined hyperlipidemia - third workshop on FCHL. Eur J Clin Invest 2002;32:71-73
11. de Graaf J, Stalenhoef AF. Defects of lipoprotein metabolism in familial combined hyperlipidaemia. Curr Opin Lipidol 1998;9:189-196
12. Albers JJ, Marcovina SM, Kennedy H, Mei JV, Henderson LO, Hannon WH. International Federation of Clinical Chemistry standardization project for measurement of apolipoproteinsA-I, and B. Comparability of apolipoprotein B values by use of International Reference Material. Clin Chem 1994;40:586-592
13. Bredie SJ, Demacker PN, Stalenhoef AF. 1997. Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity. Eur J Clin Invest 1997;27:802-811
14. Valles V, Aguilar-Salinas CA, Gómez-Pérez FJ, et al. Apolipoprotein B and AI distribution in the Mexican urban adults: results of a nation-wide survey. Metabolism 2002;51:560-568
15. McNeely M, Edwards K, Marcovina S, Brunzell JD, Motulsky A, Austin M. Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study. Atherosclerosis 2001;159:471-481
16. Kwiterovich PO. Clinical relevance of the biochemical, metabolic and genetic factors that influence low-density lipoprotein heterogeneity. Am J Cardiol 2002;90(suppl):30i-47i
17. Aguilar-Salinas CA, Díaz-Polanco A, Quintana E, et al. Genetic factors play an important role in the pathogenesis of hyperlipidemia post-transplantation. Am J Kidney Dis 2002;40:169-177
18. Sniderman AD, Wolfson C, Teng B, Franklin FA, Bachorik PS, Kwiterovich PO. Association of hyperapobetalipoprotei-nemia with endogenous hypertriglyceridemia and atherosclerosis. Ann Intern Med 1982;97:833-839
19. Porkka KV, Nuotio I, Pajukanta P, et al. Phenotype expression in familial combined hyperlipidemia. Atherosclerosis 1997;133:245-253
20. Hokanson J, Austin M, Zambon A, Brunzell J. Plasma triglycerides and LDL heterogeneity in familial combined hyperlipidemia. Arterioscler Thromb 1993;13:427-434
21. Babirak S, Brown G, Brunzell J. Familial combined hyperlipidemia and abnormal lipoprotein lipase. Arterioscler Thromb 1992;12:1176-1183
22. Ascaso JF, Merchante A, Lorente R, Real JT, Martinez-Valls J, Carmena R. A study of insulin resistance using the minimal model in nondiabetic familial combined hyperlipidemic patients. Metabolism 1998;47:508-513
23. Meijssen S, Castro Cabezas M, Twickler T, Jansen H, Erkelens DW. In vivo evidence of defective postprandial and postabsorptive free fatty acid metabolism in familial combined hyperlipidemia. J Lipid Res 2000;41:1096-1102
24. Aouizerat BE, Allayee H, Cantor RM, et al. Linkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16q. Arterioscler Thromb Vasc Biol 1999;19:2730-2736
25. Pei W, Baron H, Muller-Myhsok B, et al. Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families. Clin Genet 2000;57:29-34
26. Pihlajamäki J, Rissanen J, Valve R, Heikkinen S, Karjalainen L, Laakso M. Different regulation of free fatty acid levels and glucose oxidation by the Trp64Arg polymorphism of the beta3-adrenergic receptor gene and the promoter variant (A-3826G) of the uncoupling protein 1 gene in familial combined hyperlipidemia. Metabolism 1998;47:1397-1402
27. Coon H, Myers R, Borecki I, et al. Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. Arterioscler Thromb Vasc Biol 2000;20:2275-2280
28. Venkatesan S, Cullen P, Pacy P, Halliday D, Scott J. Stable isotopes show a direct relation between VLDL apoB over-production and serum triglycerides and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler Thromb 1993;13:1110-1118
29. Gehrisch S, Kostka H, Tiebel M, et al. Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/ hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. J Mol Med 1999;77:728-734
30. Cortner JA, Coates PM, Bennett MJ, Cryer DR, Le NA. Familial combined hyperlipidemia: use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver. J Inherit Metab Dis 1991;14:915-922
31. Pajukanta P, Porkka K, Antikainen M, et al. No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families. Arterioscler Thromb Vasc Biol 1997;17:841-850
32. Del Rincón-Jarero JP, Aguilar-Salinas CA, Guillén-Pineda LE, Gómez Pérez FJ, Rull JA. Lack of agreement between the plasma lipid based criteria and the apoprotein B for the diagnosis of Familial Combined Hyperlipidemia (FCHL) in members of FCHL kindreds. Metabolism 2002;51:218-224
33. Wijsman EM, Brunzell JD, Jarvik GP, Austin MA, Motulsky AG, Deeb SS. Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. Arterioscler Thromb Vasc Biol 1998;18:215-226
34. Hopkins P, Heiss G, Ellison C, et al. Coronary artery disease in familial combined hyperlipidemia and familial hypertriglyceridemia. Circulation 2003;108:519-523
35. Aguilar-Salinas Carlos A, Olaiz G, Valles V, et al. High prevalence of low HDL cholesterol concentrations and mixed hyperlipidemia in a Mexican nation wide survey. J Lipid Res 2001;42:1298-1307
36. Austin M, McKnight B, Edward K, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: a 20 year prospective study. Circulation 2000;101:2777-2782
37. Purnell J, Kahn S, Schwanz R, Brunzell R. Relationship of insulin sensitivity and apoB levels to intraabdominal fat in subjects with familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 2001;21:567-572
38. Aguilar-Salinas CA, Barrett HP, Pulai J, Zhu X, Schonfeld G. A familial combined hyperlipidemic kindred with impaired apolipoprotein B catabolism. Kinetics of apolipoprotein B during placebo and pravastatin therapy. Arterioscler Thromb Vase Biol 1997;17:72-82
39. Chait A, Albers JJ, Brunzell JD. Very low density overpro-duction in genetic forms of hypertriglyceridemia. Eur J Clin Invest 1980;10:161-172
40. Kissebah AH, Alfarsi A, Adams PW. Integrated regulation of very low density lipoprotein triglycerides and apolipoprotein B kinetics in man: normolipidemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia. Metabolism 1981;30:856-868
41. Allayee H, Dominguez KM, Aouizerat BE, et al. Contribution of the hepatic lipase gene to the atherogenic lipoprotein phenotype in familial combined hyperlipidemia. J Lipid Res 2000;41:245-252
42. Ayyobi AF, McGladdery SH, McNeely MJ, Austin MA, Motulsky AG, Brunzell JD. Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 2003;23:1289-1294
43. Vakkilainen J, Jauhiainen M, Yliatalo K, et al. LDL particle size in familial combined hyperlipidemia; effects of serum lipid, lipoprotein-modifying enzymes and lipid transfer proteins. J Lipid Res 2002;43:598-603
44. Pajukanta P, Terwilliger JD, Perola M, et al. Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. Am J Hum Genet 1999;64:1453-1463
45. Tahvanainen E, Pajukanta P, Porkka K, et al. 1998. Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1998;18:1810-1817
46. Pennacchio LA, Rubin EM. Apolipoprotein AS, a newly identified gene that affects plasma triglyceride levels in humans and mice. Arterioscler Thromb Vasc Biol 2003;23:529-534