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2002, Number 2

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Rev Endocrinol Nutr 2002; 10 (2)

Familial combined hyperlipidemia: Characterization in Mexican population

Aguilar SCA, Huertas A, Tusié MT, Gómez PFJ, Rull JA

Language: Spanish
References: 49
Page: 58-62
PDF size: 102.96 Kb.


ABSTRACT

Familial combined hyperlipidemia is among the most frequent causes of primary dyslipidemia in Mexico. Its manifestations include hypercholesterolemia, hypertriglyceridemia or the combination of both abnormalities. In spite of its high frequency, the proper diagnosis is rarely done. For this purpose, the measurement of a lipid profile is required in at least three first-degree relatives. The presence of familial combined hyperlipidemia in a family leads to the identification of other abnormal cases among them and the categorization as a high risk case for cardiovascular disease for the affected members. A critical review of the current literature in this field is presented in this paper. Prospective studies have confirmed the atherogenicity of the disease. Although two screenings of the whole genome has been completed, the responsible genes for this disorder have not been identified. Limitations for the characterization of the subjects as affected and the heterogeneity of the disease are among the possible explanations for these results. However, due to its high frequency, familial combined hyperlipidemia is a model of dyslipidemia that must be considered as a priority. It represents one of the greatest problems for the physicians involved in the treatment of dyslipidemic patients.


REFERENCES

  1. Davignon J, Genest J. Genetics of lipoprotein disorders. Endoc Metab Clin North Am 1998; 27: 521-534.

  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: 802-11.

  4. Aguilar-Salinas CA, Olaiz G, Valles V, Ríos JM, Gómez PFJ, Rull JA, Rojas R, Franco A, Sepúlveda J. High prevalence of low HDL cholesterol concentrations and mixed hyperlipidemia in a Mexican nation wide survey. J Lipid Research 2001; 42: 1298-307.

  5. Austin M, mcKnight B, Edward K et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation 2000; 101: 2777-82.

  6. Keulen E, Kruijshoop M, Schaper N et al. Increased intima mediathickness in familial combined hyperlipidemia associated with apoB. Arterioscler Thromb Vasc Biol 2002; 22: 283-289.

  7. 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: 1544-68.

  8. Grundy SM, Chait A, Brunzell JD. Familial combined hyperlipidemia workshop. Arteriosclerosis 1987; 7: 203-207.

  9. Erkelens DW. Metabolic basis for hypertriglyceridaemia in familial combined hyperlipidaemia. Eur Heart J 1998; 19(Suppl H): H23-6.

  10. Ascaso JF, Sales J, Merchante A, Real J, Lorente R, Martinez- Valls J, Carmena R. Influence of obesity on plasma lipoproteins, glycaemia and insulinaemia in patients with familial combined hyperlipidaemia. Int J Obes Relat Metab Disord 1997; 21: 360-6.

  11. 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 Vasc Biol 1997;17: 72-82.

  12. Castellani LW, Weinreb A, Bodnar J, Gotto AM, Doolittle M, Mehrabian M, Demant P, Lusis AJ. Mapping a gene for combined hyperlipidemia in a mutant mouse strain. Nat Genet 1998; 18: 374-377.

  13. De Graaf J, Stalenhoef AF. Defects of lipoprotein metabolism in familial combined hyperlipidaemia. Curr Opin Lipidol 1998; 9: 189-96.

  14. Bredie SJ, van Drongelen J, Kiemeney LA, Demacker PN, Beaty TH, Stalenhoef AF. Segregation analysis of plasma apolipoprotein B levels in familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1997; 17: 834-40.

  15. 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: 215-26.

  16. Ribalta J, La Ville AE, Vallve JC, Humphries S, Turner PR, Masana L. A variation in the apolipoprotein C-III gene is associated with an increased number of circulating VLDL and IDL particles in familial combined hyperlipidemia. J Lipid Res 1997; 38: 1061-9.

  17. Pihlajamaki J, Rissanen J, Heikkinen S, Karjalainen L, Laakso M. Codon 54 polymorphism of the human intestinal fatty acid binding protein 2 gene is associated with dyslipidemias but not with insulin resistance in patients with familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1997; 17: 1039-44.

  18. Tahvanainen E, Pajukanta P, Porkka K, Nieminen S, Ikavalko L, Nuotio I, Taskinen MR, Peltonen L, Ehnholm C. 1998. Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial

  19. combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1998; 18: 1810-7.

  20. Pajukanta P, Terwilliger JD, Perola M, Hiekkalinna T, Nuotio I, Ellonen P, Parkkonen M, Hartiala J, Ylitalo K, Pihlajamaki J, Porkka K, Laakso M, Viikari J, Ehnholm C, Taskinen MR, Peltonen L. 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: 1453-63.

  21. Del Rincón-Jarero JP, Aguilar-Salinas CA, Guillén-Pineda LE, Gómez PFJ, 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: 218-24.

  22. Veerkamp M, de Graaf J, Bredie J et al. Diagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families: results of a 5 year follow up study. Arterioscler Thromb Vasc Biol 2002; 22: 274-282.

  23. Aguilar-Salinas CA, Barrett H, Schonfeld G. Metabolic modes of action of statins in the hyperlipoproteinemias. Atherosclerosis 1998; 141: 203-207.

  24. Aguilar-Salinas CA, Fanghänel-Salmón G, Meza E, Montes J, Gulías-Herrero A, Sánchez L, Monterrubio-Flores E, González-Valdez H, Gómez PFJ. Ciprofibrate vs gemfibrozil in the treatment of mixed hyperlipidemias: an open label, multicenter study. Metabolism 2001; 50: 729-33.

  25. Aguilar-Salinas CA, Díaz-Polanco A, Quintana E, Macías M, Arellano A, Ramírez E, Ordóñez ML, Velásquez-Alva C, Gómez PFJ, Alberú J, Correa-Rotter R. Genetic factors play an important role in the pathogenesis of hyperlipidemia posttransplantation. Am J Kidney Diseases 2002;40:169-77.

  26. Davignon J, Genest J. Genetics of lipoprotein disorders. Endoc Metab Clin North Am 1998; 27: 521-534.

  27. Arner P. Is familial combined hyperlipidaemia a genetic disorder of adipose tissue? Curr Opin Lipidol 1997; 8: 89-94.

  28. 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: 802-11.

  29. Aguilar-Salinas CA, Olaiz G, Valles V, Ríos JM, Gómez PFJ, Rull JA, Rojas R, Franco A, Sepúlveda J. High prevalence of low HDL cholesterol concentrations and mixed hyperlipidemia in a Mexican nation wide survey. J Lipid Research 2001; 42: 1298-307.

  30. Austin M, mcKnight B, Edward K et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation 2000; 101: 2777-82.

  31. Keulen E, Kruijshoop M, Schaper N et al. Increased intima mediathickness in familial combined hyperlipidemia associated with apoB. Arterioscler Thromb Vasc Biol 2002; 22: 283-289.

  32. 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: 1544-68.

  33. Grundy SM, Chait A, Brunzell JD. Familial combined hyperlipidemia workshop. Arteriosclerosis 1987; 7: 203-207.

  34. Erkelens DW. Metabolic basis for hypertriglyceridaemia in familial combined hyperlipidaemia. Eur Heart J 1998; 19(Suppl H): H23-6.

  35. Ascaso JF, Sales J, Merchante A, Real J, Lorente R, Martinez- Valls J, Carmena R. Influence of obesity on plasma lipoproteins, glycaemia and insulinaemia in patients with familial combined hyperlipidaemia. Int J Obes Relat Metab Disord 1997; 21: 360-6.

  36. 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 Vasc Biol 1997;17: 72-82.

  37. Castellani LW, Weinreb A, Bodnar J, Gotto AM, Doolittle M, Mehrabian M, Demant P, Lusis AJ. Mapping a gene for combined hyperlipidemia in a mutant mouse strain. Nat Genet 1998; 18: 374-377.

  38. De Graaf J, Stalenhoef AF. Defects of lipoprotein metabolism in familial combined hyperlipidaemia. Curr Opin Lipidol 1998; 9: 189-96.

  39. Bredie SJ, van Drongelen J, Kiemeney LA, Demacker PN, Beaty TH, Stalenhoef AF. Segregation analysis of plasma apolipoprotein B levels in familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1997; 17: 834-40.

  40. 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: 215-26.

  41. Ribalta J, La Ville AE, Vallve JC, Humphries S, Turner PR, Masana L. A variation in the apolipoprotein C-III gene is associated with an increased number of circulating VLDL and IDL particles in familial combined hyperlipidemia. J Lipid Res 1997; 38: 1061-9.

  42. Pihlajamaki J, Rissanen J, Heikkinen S, Karjalainen L, Laakso M. Codon 54 polymorphism of the human intestinal fatty acid binding protein 2 gene is associated with dyslipidemias but not with insulin resistance in patients with familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1997; 17: 1039-44.

  43. Tahvanainen E, Pajukanta P, Porkka K, Nieminen S, Ikavalko L, Nuotio I, Taskinen MR, Peltonen L, Ehnholm C. 1998. Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1998; 18: 1810-7.

  44. Pajukanta P, Terwilliger JD, Perola M, Hiekkalinna T, Nuotio I, Ellonen P, Parkkonen M, Hartiala J, Ylitalo K, Pihlajamaki J, Porkka K, Laakso M, Viikari J, Ehnholm C, Taskinen MR, Peltonen L. 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: 1453-63.

  45. Del Rincón-Jarero JP, Aguilar-Salinas CA, Guillén-Pineda LE, Gómez PFJ, 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: 218-24.

  46. Veerkamp M, de Graaf J, Bredie J et al. Diagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families: results of a 5 year follow up study. Arterioscler Thromb Vasc Biol 2002; 22: 274-282.

  47. Aguilar-Salinas CA, Barrett H, Schonfeld G. Metabolic modes of action of statins in the hyperlipoproteinemias. Atherosclerosis 1998; 141: 203-207.

  48. Aguilar-Salinas CA, Fanghänel-Salmón G, Meza E, Montes J, Gulías-Herrero A, Sánchez L, Monterrubio-Flores E, González-Valdez H, Gómez PFJ. Ciprofibrate vs gemfibrozil in the treatment of mixed hyperlipidemias: an open label, multicenter study. Metabolism 2001; 50: 729-33.

  49. Aguilar-Salinas CA, Díaz-Polanco A, Quintana E, Macías M, Arellano A, Ramírez E, Ordóñez ML, Velásquez-Alva C, Gómez PFJ, Alberú J, Correa-Rotter R. Genetic factors play an important role in the pathogenesis of hyperlipidemia posttransplantation. Am J Kidney Diseases 2002;40:169-77.




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