Introduction

  • 1  Durrington PN. Hyperlipidaemia: Diagnosis and Management, 3rd edn. London: Hodder Arnold, 2007.
  • 2  Scriver CR, Beaudet AL, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw Hill, 2001.

Classification of dyslipidaemias

  • 3  Fredrickson DS, Levy RI, Lees RS: Fat transport in lipoproteins – an integrated approach to mechanisms and disorders. N Engl J Med 1967;276:34–42, 94–103, 148–56, 215–52, 273–81. Cross Ref link Pubmed link

Xanthomas

    XanthomasDyslipidaemic plane (planar) xanthoma

      Xanthelasma

      • 4  Christoffersen M, Frikke‐Schmidt R, Schnohr P, et al. Xanthelasmata, arcus corneae, and ischaemic vascular disease and death in general population: prospective cohort study. BMJ 2011;343:d5497. Cross Ref link Pubmed link

      Primary dyslipidaemias: hypercholesterolaemia

        Familial hypercholesterolaemia

        • 5  Thannhauser SJ, Magendanta H. The different clincal groups of xanthomatous diseases: a clinical physiological study of 22 cases. Ann Intern Med 1938;11:1662–746. Cross Ref link
        • 6  Müller C. Angina pectoris in hereditary xanthomatosis. Arch Intern Med 1939;64:675–700. Cross Ref link
        • 7  Gofman JW, De Lalla O, Glazier F, et al. The serum lipoprotein transport system in health, metabolic diseases, atherosclerosis and coronary artery disease. Plasma 1954;2:413–84.
        • 8  Goldstein JL, Brown MS. Familial hypercholesterolaemia: identification of a defect in the regulation of 3‐hydroxy‐3‐methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. Proc Natl Acad Sci USA 1973;70:2804–8. Cross Ref link Pubmed link
        • 9  Timms KM, Wagner S, Samuels ME, et al. A mutation in PCSK9 causing autosomal dominant hypercholesterolaemia in a Utah pedigree. Hum Genet 2004;114:349–53. Cross Ref link Pubmed link
        • 10  Abifadel M, Varret M, Rabes JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolaemia. Nat Genet 2003;34:154–6. Cross Ref link Pubmed link
        • 11  Soutar AK, Nauomova RP, Traub LM. Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolaemia. Arterioscler Thromb Vasc Biol 2003;23:1963–70. Cross Ref link Pubmed link
        • 12  Fellin R, Zuliani G, Arca M, et al. Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolaemia (ARH). Nutr Metab Cardiovasc Dis 2003;13:278–86. Cross Ref link Pubmed link
        • 13  Slack J. Risks of ischaemic heart disease in familial hyperlipoproteinaemia states. Lancet 1969;ii:1380–2. Cross Ref link
        • 14  Kwiterovitch PO, Jr, Fredrickson DS, Levy RI. Familial hypercholesterolaemia (one form of familial type II hyperlipoproteinaemia). A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest 1974;53:1237. Cross Ref link Pubmed link
        • 15  Scientific Steering Committee of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893–6. Cross Ref link Pubmed link
        • 16  World Health Organization. Familial Hypercholesterolaemia – Report of a Second WHO Consultation. WHO Publication No. WHO/HGN/FH/CONS/99.2. Geneva: WHO, 1999.
        • 17  Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolaemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171–6. Cross Ref link Pubmed link
        • 18  Marais AD, Blom DJ. Recent advances in the treatment of homozygous familial hypercholesterolaemia. Curr Opin Lipidol 2013;24:288–94. Cross Ref link Pubmed link

        Primary dyslipidaemias: combined dyslipidaemia

          Type III hyperlipoproteinaemia

          • 19  Gofman IW, Rubin L, McGinley JP, Jones HB. Hyperlipoproteinaemia. Am J Med 1954;17:514–20. Cross Ref link Pubmed link
          • 20  Gofman IW, Rubin L, Lees RS. Fat transport in lipoproteins. An integrated approach to mechanisms and disorders. N Engl J Med 1967;276:32–44, 94–103, 148–56, 215–26, 273–81.
          • 21  Utermann G. Apolipoprotein E polymorphisms in health and disease. Am Heart J 1987;113;433–40. Cross Ref link Pubmed link
          • 22  Mahley RW, Rall SC. Type III hyperlipoproteinaemia (dysbetalipoproteinaemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw‐Hill, 2001:2835–62.
          • 23  Morganroth J, Levy RI, Fredrickson DS. The biochemical, clinical and genetic features of type III hyperlipoproteinaemia. Ann Intern Med 1975;82:158–74. Cross Ref link Pubmed link
          • 24  Brewer HB, Zech LA, Gregg RE, et al. Type III hyperlipoproteinaemia. Diagnosis, molecular defects, pathology and treatment. Ann Intern Med 1983;98:623–40. Cross Ref link Pubmed link
          • 25  Yang AH, Ng YY, Tarng DC, et al. Association of apolipoprotein E polymorphism with lipoprotein glomerulopathy. Nephron 1998;78:266–70. Cross Ref link Pubmed link
          • 26  Vega GL, East C, Grundy SM. Lovastatin therapy in familial dysbetalipoproteinaemia: effects on kinetics of apolipoprotein B. Atherosclerosis 1988;70:131–43. Cross Ref link Pubmed link
          • 27  Kuo PT, Wilson AC, Kostis JB, et al. Treatment of type III hyperlipoproteinaemia with gemfibrozil to retard progression of coronary artery disease. Am Heart J 1988;116:85–90. Cross Ref link Pubmed link