Summary
Hyperlipidaemia is a common and important clinical entity which frequently has a genetic basis. The chief features of severe hypertriglyceridaemia are eruptive xanthomata and acute pancreatitis, whereas most forms of hypercholesterolaemia are associated with premature coronary heart disease. This applies especially to familial hypercholesterolaemia, which is also characterized by tendon xanthomata. Better recognition of hyperlipidaemia allied to recent improvements in treatment should help reduce the frequency of its disabling and sometimes fatal consequences.
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Allen, J. M., Thompson, G. R., Myant, N. B., Steiner, R. and Oakley, C. M. Cardiovascular complications of homozygous familial hypercholesterolaemia.Br. Heart J. 44 (1980) 361–368
Beaumont, J. L., Carlson, L. A., Cooper, G. R., Fejfar, Z., Fredrickson, D. S. and Strasser, T. Classification of hyperlipidaemias and hyperlipoproteinaemias.Bull. WHO 43 (1970) 891–908
Bilheimer, D. W., Goldstein, J. L., Grundy, S. M., Starzl, T. E. and Brown, M. S. Liver transplantation to provide low-density-lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia.N. Engl. J. Med. 311 (1984) 1658–1664
Breckenridge, W. C., Little, A., Steiner, G., Chow, A. and Poapst, M. Hypertriglyceridemia associated with deficiency of apolipoprotein CII.N. Engl. J. Med. 298 (1978) 1265–1273
British Cardiac Society Working Group on Coronary Prevention. Conclusions and recommendations.Br. Heart J. 57 (1987) 188–189
Brown, M. S., Goldstein, J. L. and Fredrickson, D. S. Familial type 3 hyperlipoproteinemia (dysbetalipoproteinemia). In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease 5th edition, McGraw-Hill, New York, 1983, pp. 655–671
Consensus Conference. Lowering blood cholesterol to prevent heart disease.J. Am. Med. Assoc. 253 (1985) 2080–2086
Fredrickson, D. S., Levy, R. I. and Lees, R. I. Fat transport in lipoproteins — an integrated approach to mechanisms and disorders.N. Engl. J. Med. 276 (1967) 148–156
Friedewald, W. T., Levy, R. I. and Fredrickson, D. S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.Clin. Chem. 18 (1972) 499–502
Gagné, C., Moorjani, S., Brun, D., Toussaint, M., Lupien, P-J. Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women.Atherosclerosis 34 (1979) 13–24
Goldstein, J. L. and Brown, M. S. Familial hypercholesterolemia. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease 5th edition, McGraw-Hill, New York, 1983, pp. 672–712
Goldstein, J. L., Brown, M. S., Anderson, R. G. W., Russell, D. W., Schneider, W. J. Receptor-mediated endocytosis: concepts emerging from the LDL receptor system.Annu. Rev. Cell Biol. 1 (1985) 1–39
Goldstein, J. L., Schrott, H. G., Hazzard, W. R., Bierman, E. L. and Motulsky, A. G. 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. 52 (1973) 1544–1568
Heiberg, A. Inheritance of xanthomatosis and hyper-betalipoproteinaemia. A study of seven large kindreds.Clin. Genet. 9 (1976) 92–111
Kwiterovich, P. O., Fredrickson, D. S. and Levy, R. I. Familial hypercholesterolaemia (one form of familial type II hyperlipoproteinaemia).J. Clin. Invest. 53 (1974) 1237–1249
Martin, M. J., Hulley, S. B., Browner, W. S., Kuller, L. H. and Wentworth, D. Serum cholesterol, blood pressure and mortality: implications from a cohort of 361 662 men.Lancet 2 (1986) 933–936
Moorjani, S., Gagné, C., Lupien, P-J and Brun, D. Plasma triglycerides related decrease in high density lipoprotein cholesterol and its association with myocardial infarction in heterozygous familial hypercholesterolemia.Metabolism 35 (1986) 311–316
Nikkila, E. A. Familial lipoprotein lipase deficiency and related disorders of chylomicron metabolism. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease, 5th edition, McGraw-Hill, New York, 1983, pp. 622–642
Nikkila, E. A. and Aro, A. Family study of serum lipids and lipoproteins in coronary heart disease.Lancet 1 (1973) 954–959
Seftel, H. C., Baker, S. G., Sandler, M. P., Forman, M. B., Joffe, B. I., Mendelsohn, D., Jenkins, T. and Mieny, C. J. A host of hypercholesterolaemic homozygotes in South Africa.Br. Med. J. 281 (1980) 633–636
Slack, J. Risk of ischaemic heart disease in familial hyperlipoproteinaemic states.Lancet 2 (1969) 1380–1382
Sprecher, D. L., Hoeg, J. M., Schaefer, E. J., Zech, L. A., Gregg, R. E., Lakatos, E. and Brewer, H. B. Jr. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolaemia.Metabolism 34 (1985) 294–299
Streja, D., Steiner, G. and Kwiterovich, P. O. Plasma high density lipoproteins and ischemic heart disease: studies in a large kindred with familial hypercholesterolemia.Ann. Intern. Med. 89 (1978) 871–880
Sugrue, D. D., Thompson, G. R., Oakley, C. M., Trayner, I. M. and Steiner, R. E. Contrasting patterns of coronary atherosclerosis in normocholesterolaemic smokers and patients with familial hypercholesterolaemia.Br. Med. J. 283 (1981) 1358–1360
Thompson, G. R. The hyperlipidaemias. In Lloyd, J. K. and Scriver, C. R. (eds.),Genetic and Metabolic Disease in Pediatrics, Butterworths, London, 1985, pp. 211–233
Thompson, G. R. Evidence that lowering serum lipids favourably influences coronary heart disease.Q. J. Med. (New Series) 62 (1987) 87–95
Thompson, G. R., Ford, J., Jenkinson, M. and Trayner, I. Efficacy of mevinolin as adjuvant therapy for refractory familial hypercholesterolaemia.Q. J. Med. 60 (1986) 801–809
Thompson, G. R., Lowenthal, R. and Myant, N. B. Plasma exchange in the management of homozygous familial hypercholesterolaemia.Lancet 1 (1975) 1208–1211
Thompson, G. R., Miller, J. P. and Breslow, J. L. Improved survival of patients with homozygous familial hypercholesterolaemia treated by plasma exchange.Br. Med. J. 291 (1985) 1671–1673
Thompson, G. R. and Sapsford, R. Coronary artery bypass grafting and hyperlipidaemia.Br. Heart J. 53 (1985) 237–239
Yokoyama, S., Hayashi, R., Satani, M. and Yamamoto, A. Selective removal of low density lipoprotein by plasmapheresis in familial hypercholesterolemia.Arteriosclerosis 5 (1985) 613–622
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Thompson, G.R. Clinical consequences of hyperlipidaemia. J Inherit Metab Dis 11 (Suppl 1), 18–28 (1988). https://doi.org/10.1007/BF01800567
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DOI: https://doi.org/10.1007/BF01800567