Familial high density lipoprotein deficiency

Eckardstein Avon (2005) Differential diagnosis of familial high density lipoprotein deficiency syndromes. Atherosclerosis 186 231-239... 

Schaefer, E. J., Zech, L. A., Schwartz, D. E., and Brewer, H. B., Jr., Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). Ann. Intern. Med. 93, 261-266 (1980). 

Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 22 336-345,1999. 

Lapicka-Bodzioch K, Bodzioch M, Krull M, et al. Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA I gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. Biochim Biophys Acta 1536 42-48, 2001. 

Familial high-density lipoprotein deficiency Tangier disease. In The metabolic basis of inherited disease. Eds. J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson. New York McGraw-Hill Book Co. 1966, p. 486. 

Synonyms Familial high density lipoprotein deficiency hypo-cx-lipoproteinemia. 

Hoffman, H. N., and D. S. Fredrickson Tangier disease. (Familial high density lipoprotein deficiency) Clinical and genetic features in two adults. Amer. J. Med. 39, 582 (1965). 

Schaefer EJ. Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency. Arteriosclerosis 1984 4 303-22. 

F6. Forte, G. M., Norum, K. 11., Glomset, J. A., and Nichols, A. V., Plasma lipoproteins in familial lecithin cholesterol acyltransferase deficiency structure of low- and high-density lipoproteins as recorded by electron microscopy. J. Clin. Invest. 50, 1141-1148 (1971). 

ML Brown, A Inazu, CB Hesler, LB Agellon, C Mann, ME Whitelock, YL Marcel, RW Milne, J Koizumi, H Mabuchi, T Takeda, AR Tall. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature (London) 342 448-451, 1989. 

M37. Mitchell, C. D., King, W. C., Applegate, K. R., Forte, T., Clomset, J. A., Norum, K. R., and Cjone, E., Characterization ofapolipoprotein E-rich high density lipoproteins in familial lecithin cholesterol acyltransferase deficiency. /. Lipid Res. 21, 625-634 (1980). 

An inherited lack of, or deficiency in, cell surface receptors for low density lipoproteins results in a condition, familial hypercholesterolaemia, in which blood cholesterol concentrations are rather high. This condition, if untreated, leads to severe vascular disease and death from ischaemic heart disease. Lipids are involved in several ways. First, one of the characteristics of developing atherosclerotic plaques is an accumulation of lipids, particularly cholesteryl esters, which are derived from plasma lipoproteins secondly, lipids are involved (because of their role as precursors of eicosanoids) in the formation of thrombi which may block arteries and cause ischaemia. Another risk factor for ischaemic heart disease that involves lipid metabolism is obesity, characterized by an excessive accumulation of adipose tissue. In particular, upper body obesity is also associated with Type II diabetes and hyperinsulinaemia. Hyperlipoproteinaemia is secondary to obesity and diabetes mellitus and if these conditions are treated, blood lipid concentrations return to normal. 

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