Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene

New England Journal of Medicine

Volumn 335, Issue 12, 1996, Pages 848-854

  Benlian, Pascale ^a,b   De Gennes, Jean Luc ^b   Foubert, Luc ^a,b   Zhang, Hanfang ^a   Gagné, S Eric ^a   Hayden, Michael ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHYLOMICRON; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADOLESCENT; ADULT; ARTICLE; ATHEROGENESIS; ATHEROSCLEROSIS; CASE REPORT; CORONARY RISK; DISEASE PREDISPOSITION; DNA DETERMINATION; DYSLIPIDEMIA; FEMALE; GENE MUTATION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; HYPERTRIGLYCERIDEMIA; MALE; ONSET AGE; PRIORITY JOURNAL; RISK ASSESSMENT; SYNDROME;

AGED; ARTERIOSCLEROSIS; CHOLESTEROL; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TRIGLYCERIDES;

EID: 0029808302     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199609193351203     Document Type: Article

References (40)

1. Austin MR. Plasma triglyceride as a risk factor for coronary heart disease: the epidemiologic evidence and beyond. Am J Epidemiol 1989;129:249-59.
2. Eckel RH. Lipoprotein lipase: a multifunctional enzyme relevant to common metabolic diseases. N Engl J Mcd 1989;320:1060-8. [Erratum, N Engl J Med 1990;322:477.]
3. Olivecrona G, Olivecrona T. Triglyceride lipases and atherosclerosis. Curr Opin Lipidol 1995;6:291-305.
4. Brunzell JD. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Bcaudet AL, Sly WS, Valle D. The metabolic bases of inherited disease. 7th ed. Vol. 2. New York: McGraw-Hill, 1995:1913-32.
5. Hayden MR, Ma Y, Brunzell J, Henderson HE. Genetic variants affecting human lipoprotein and hepatic lipases. Curr Opin Lipidol 1991;2:104-9.
6. Reymer PWA, Gagné E, Groenemeyer BE, et al. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 1995;10:28-34.
7. Bijvoet S, Gagné E, Moorjani S, et al. Significant alterations in plasma lipoproteins and apoproteins before the age of 40 in heterozygotes for LPL deficiency. J Lipid Res 1996;37:640-50.
8. Mailly F, Tugrul Y, Reymer PWA, et al. A common variant in the gene for lipoprotein lipase (Asp9→Asn): functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler Thromb Vasc Biol 1995;15:468-78.
9. Jemaa R, Fumeron F, Poirier O, et al. Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study. J Lipid Res 1995;36:2141-6.
10. Havel RJ, Gordon RS Jr. Idiopathic hyperlipemia: metabolic studies in an affected family. J Clin Invest 1960;39:1777-90.
11. Fredrickson DS, Lees RS. Familial hyperlipoproteinemia. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. The metabolic basis of inherited disease. 2nd ed. New York: McGraw Hill, 1965:429-85.
12. Lees RS, Wilson DE, Schonfeld G, Fleet S. The familial dyslipoproteinemias. In: Steinberg AG, Beam AG. Progress in medical genetics. Vol. 9. New York: Grune & Stratton, 1973:237-90.
13. Nikkilä EA. Familial lipoprotien lipase deficiency and related disorders of chylomicron metabolism. In: Stanbury JB, Wyngaardcn JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983:622-42.
14. de Genncs J-L, Ménagé J-J, Truffert J. Hyperglycéridémie exogène (hyperchylomicronémie) essentielle de type I: etude clinique et évolutive de cinq observations. Nouv Presse Med 1972;1:1835-40.
15. Allain CC, Poon LS, Chan CSG, Richmond W, Fu PC. Enzymatic determination of total serum cholesterol. Clin Chem 1974;20:470-5.
16. Buccolo G, David H. Quantitative determination of serum triglycerides by the use of enzymes. Clin Chem 1973;19:476-82.
17. 2+ quantitation of high-density-lipoprotein cholesterol: an ultrafiltration procedure for lipemic samples. Clin Chem 1978;24:900-4.
18. Chapman MJ, Goldstein S. Comparison of the serum low density lipoprotein and of its apoprotein in the pig, rhesus monkey and baboon with that in man. Atherosclerosis 1976;25:267-91.
19. Babirak S, Iverius PH, Fujimoto WY, Brunzell JD. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 1989;9:326-34.
20. Iverius PH, Brunzell JD. Human adipose lipoprotein lipase: changes with feeding and relation to postheparin plasma enzyme. Am J Physiol 1985;249:E107-E114.
21. Chadefaux B, Coude M, Hamet M, et al. Dosage radioisotopique de la L-homocystéine totale dans le plasma et l'urine: application à des dosages en séries. Ann Biol Clin 1990;48:33-6.
22. Gagné E, Genest J Jr, Zhang H, Clarke LA, Hayden MR. Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb 1994;14:1250-7.
23. Monsalvc MV, Henderson H, Roederer G, et al. A missense mutation at codon 188 of the human lipoprotein Lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest 1990;86:728-34.
24. Ma Y, Bruin T, Tuzgol S, et al. Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase: in vivo evidence that aspartic acid 156 is essential for catalysis. J Biol Chem 1992;267:1918-23.
25. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J Lipid Res 1990;31:545-8.
26. 243 in human lipoprotein lipase in patients of different ancestries. Hum Mutat 1994;3:52-8.
27. 250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 1992;13:649-53.
28. Hide WA, Chan L, Li W-H. Structure and evolution of the lipase superfamily. J Lipid Res 1992;33:167-78.
29. Hoeg JM, Osborne JC Jr, Gregg RE, Brewer HB Jr. Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. Am J Med 1983;75: 889-92.
30. Stalenhoef AFH, Malloy MJ, Kane JP, Havel RJ. Metabolism of apolipoprotein B-48 and B-100 of triglyceride-rich lipoproteins in normal and lipoprotein lipase-deficient humans. Proc Natl Acad Sci USA 1984;81: 1839-43.
31. Pacy PJH, Mitropoulos KA, Venkatesan S, Watts GF, Reeves BEA, Halliday D. Metabolism of apolipoprotein B-100 and of triglyceride-rich lipoprotein particles in the absence of functional lipoprotein lipase. Atherosclerosis 1993;103:231-43.
32. Demant T, Gaw A, Watts GF, et al. Metabolism of apoB-100 containing lipoproteins in familial hyperchylomicronemia. J Lipid Res 1993;34: 147-56.
33. Zambon A, Torres A, Bijvoet S, et al. Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency. Lancet 1993;341:1119-21.
34. Nicoll A, Lewis B. Evaluation of the roles of lipoprotein lipase and hepatic lipase in lipoprotein metabolism: in vivo and in vitro studies in man. Eur J Clin Invest 1980;10:487-95.
35. Sprecher DL, Knauer SL, Black DM, et al. Chylomicron-retinyl palmitate clearance in type I hyperlipidemic families. J Clin Invest 1991;88: 985-94.
36. Patsch JR. Plasma triglycerides and high density lipoproteins. In: Catapano AL, Bernini F, Corsini A, eds. High density lipoproteins: physiopathology and clinical relevance. Vol. 24 of Atherosclerosis reviews. New York: Raven Press, 1993:139-50.
37. Goldberg IJ, Blaner WS, Vanni TM, Moukides M, Ramakrishnan R. Role of lipoprotein lipase in the regulation of high density lipoprotein apolipoprotein metabolism: studies in normal and lipoprotein lipase-inhibited monkeys. J Clin Invest 1990;86:463-73.
38. Williams KJ, Tabas I. The response-to-retention hypothesis of early atherogenesis. Arterioscier Thromb Vasc Biol 1995;15:551-61.
39. Hodis HN, Mack WJ. Triglyceride-rich lipoproteins and the progression of coronary artery disease. Curr Opin Lipidol 1995;6:209-14.
40. Miesenböck G, Hölzl B, Föger B, et al. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J Clin Invest 1993; 91:448-55.