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Genetic lipoprotein disorders

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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]	tendinous xanthomas corneal arcus premature CAD family history of hypercholesterolemia	0.2% of general population 5% of MI survivors <60 yr old Autosomal codominant
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	1/3: LDL only [IIa] 1/3: VLDL only [IV] 1/3: LDL and VLDL [IIb] Apo-B overproduction is common	usually >30 yr old often overweight usually no xanthomas premature CAD different generations have different lipoprotein abnormalities	0.5% of general population 15% of MI survivors <60 yr old autosomal dominant
Polygenic hypercholesterolemia TC>6.5,LDL>4.0,TG<2.3	+LDL [IIa]	premature CAD no xanthomas possible family history of hypercholesterolemia	unknown
Familial hypertriglyceridemia (2.3-10 mmol/L)	+VLDL only (high VLDL production, decreased lipoprotein lipase activity) [IV]	often overweight >30 yr old often diabetic hyperuriaemic may or may not have premature CAD determined by family history and HDL-C	1% of general population 5% of MI survivors <60 yr old autosomal dominant
Severe hypertriglyceridemia ( TG >10 mmol/L))	+Chylomicrons and VLDL (high VLDL production, decreased lipoprotein lipase activity) [V]	usually middle-aged often obese often hyperuricaemic usually diabetic risk for recurrent pancreatitis	unknown
Familial hypoalpha- lipoproteinemia	reduced HDL (< 0.78 mmol/L) in males; <0.90 mmol/L) in females) (decreased apo A-1 production)	premature CAD	1% of general population 25-30% of patients with premature CAD autosomal recessive
Dysbetalipoproteinemia (TC 9-14 mmol/L; TG 9-14 mmol/L)	+IDL, +chylomicron remnants (defective apo E2/2) [III]	yellow palmar creases palmar xanthomas tuberoeruptive xanthomas premature CAD	uncommon 3% of MI survivors autosomal recessive

* 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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Genetic lipoprotein disorders

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