Fat Transport in Lipoproteins — An Integrated Approach to Mechanisms and Disorders

Fredrickson, Donald S.; Levy, Robert I.; Lees, Robert S.

doi:10.1056/nejm196701262760406

Cited by 487 publications

(226 citation statements)

References 28 publications

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“…This might reflect a coincident rise in other lipoprotein concentrations (very low density lipoprotein and intermediate density lipoprotein) in people with familial hypercholesterolaemia. 12 The advantage of using MoM values rather than absolute mass units (such as mmol/l) is that they tend to overcome systematic variation between laboratories in serum cholesterol measurement, provide a simple measure of how high or low a person's cholesterol is compared with a typical "average" population level, and a given MoM cut off will tend to yield the same screening performance (detection rates and false positive rates) in different populations. Within a given population any MoM value can easily be converted into a local cholesterol concentration cut off in mmol/l.…”

Section: Discussionmentioning

confidence: 99%

Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis

Wald¹,

Bestwick²,

Wald³

2007

BMJ

166

100

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Objective To develop a population screening strategy for familial hypercholesterolaemia. Design Meta-analysis of published data on total and low density lipoprotein (LDL) cholesterol in people with and without familial hypercholesterolaemia according to age. Thirteen studies reporting on 1907 cases and 16 221 controls were used in the analysis. Included studies had at least 10 cases and controls with data on the distribution of cholesterol in affected and unaffected individuals. Main outcome measures Detection rates (sensitivity) for specified false positive rates (0.1%, 0.5%, and 1%) in newborns and in age groups 1-9, 10-19, 20-39, 40-59, and ≥60 years. Results Serum cholesterol concentration discriminated best between people with and without familial hypercholesterolaemia at ages 1-9, when the detection rates with total cholesterol were 88%, 94%, and 96% for false positive rates of 0.1%, 0.5%, and 1%. The results were similar with LDL cholesterol. Screening newborns was much less effective. Once an affected child is identified, measurement of cholesterol would detect about 96% of parents with the disorder, using the simple rule that the parent with the higher serum cholesterol concentration is the affected parent. Conclusions The proposed strategy of screening children and parents for familial hypercholesterolaemia could have considerable impact in preventing the medical consequences of this disorder in two generations simultaneously.

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Section: Discussionmentioning

confidence: 99%

Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis

Wald¹,

Bestwick²,

Wald³

2007

BMJ

166

100

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show abstract

“…The endogenous hypertriglyceridemia was judged by the increase of both TG concentration (more than 200 mg/100 ml) and pre-beta lipoprotein in paper-electrophoresis. The patients who had diseases other than obesity which are known to complicate endogenous hypertriglyceridemia (Fredrickson et al 1967) or who had a habit of either excessive alcohol intake or use of the definite drugs were not included.…”

Section: Methodsmentioning

confidence: 99%

Liver Lipids in Patients with Endogenous Hypertriglyceridemia

Maruhama

Yanbe

Tadaki

et al. 1974

Tohoku J. Exp. Med.

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“…For therapeutic and perhaps for prognostic purposes it is particularly necessary to distinguish hyperbetalipoproteinaemia, chylomicronaemia (exogenous hypertriglyceridaemia), and prebeta-lipoproteinaemia (the commonest variety of endogenous hypertriglyceridaemia). These are the types distinguished by Lloyd (1968); further, less common lipoprotein patterns are described in the classification of Fredrickson et al (1967) which was a major advance in clarifying our recognition of hyperlipidaemias. That still other patterns occur is certain; a common variant is an increase both in beta-and pre beta-lipoprotein, which we commonly see in patients with ischaemic heart disease.…”

Section: Normal Rangesmentioning

confidence: 99%

“…Opalescence indicates a substantial degree of hypertriglyceridaemia; if the light-scattering material has largely floated to the top of the tube it is probably due to chylomicronaemia, while prebeta-lipoprotein remains evenly distributed throughout the specimen. These points are discussed in greater detail in the classic papers of Fredrickson, Levy, and Lees (1967).…”

mentioning

confidence: 99%