Features of Major Genetic Lipoprotein Disorders
Disorder | Principle plasma abnormality [corresponding Fredrickson classification**] | Clinical Features | Estimated Frequency |
Heterozygous familial hypercholesterolemia TC>7.5,LDL>5.0,TG<2.3 | +LDL only (inherited abnormality of the LDL receptor) [IIa] |
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Familial defective apolipoprotein B | +LDL (inherited abnormality of apoprotein B interferes with binding to LDL receptor) [IIa] | same clinical features as heterozygous familial hypercholesterolemia | same frequency as heterozygous familial hypercholesterolemia |
Familial combined hyperlipidemia TC>7.0,LDL>4.0,HDL<1.0,TG>3.5 |
Apo-B overproduction is common |
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Polygenic hypercholesterolemia TC>6.5,LDL>4.0,TG<2.3 | +LDL [IIa] |
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Familial hypertriglyceridemia (2.3-10 mmol/L) | +VLDL only (high VLDL production, decreased lipoprotein lipase activity) [IV] |
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Severe hypertriglyceridemia ( TG >10 mmol/L)) | +Chylomicrons and VLDL (high VLDL production, decreased lipoprotein lipase activity) [V] |
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Familial hypoalpha- lipoproteinemia | reduced HDL (< 0.78 mmol/L) in males; <0.90 mmol/L) in females) (decreased apo A-1 production) |
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Dysbetalipoproteinemia (TC 9-14 mmol/L; TG 9-14 mmol/L) | +IDL, +chylomicron remnants (defective apo E2/2) [III] |
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* CAD = coronary artery disease; HDL-C = high-density lipoprotein cholesterol; IDL = intermediate-density lipoproteins; LDL = low-density lipoproteins; MI = myocardial infarction; TC = total cholesterol; TG = triglycerides; VLDL = very low-density lipoproteins ** See Fredrickson Classification of Lipid Disorders More information.
The lipid levels in the table are a guide to the patterns of found in the dyslipidaemias. Diagnosis is made by taking into account other factors such as age, sex, ethnic origin, family history and physical findings and other laboratory tests such as apolipoproteins.
NB: 1mmol/cholesterol = 39mg/dl; 1 mmol triglyceride = 89mg/dl
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