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13 Cards in this Set
- Front
- Back
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Chylomicrons
-apolipoporteins |
-Apo B48
-Apo E |
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VLDL
-apolipoporteins |
-Apo B100
-Apo E |
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IDL
-apolipoporteins |
-Apo B100
-Apo E |
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LDL
-apolipoporteins |
-Apo B100
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HDL
-apolipoporteins |
-Apo AI
-Apo AII -Apo C -Apo E |
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Primary Lipoproteinemias (7)
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1. Familial hypercholesterolemia
2. Familial combined hyperlipidemia 3. Type III Hyperlipoproteinemia 4. Lipoprotein lipase deficiency 5. Apo CII deficiency 6. Familial hypertriglycerideimia 7. Polygenic hypercholesterolemia |
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Familial Hypercholesterolemia
-defect -inheritance -lipid levels -clinical manifestations |
-mutation of the LDL receptor that results in LDL receptor deficiency or malfunction
-autosomal dominant w/ complete penetrance -TC and LDL range from 250-600 (heterzygote) to 500-1000 (homozygote) -premature CHD, xanthomas |
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Familial combined hyperlipidemia
-defect -inheritance -lipid levels -clinical manifestations |
-unknown genetic cause
-autosomal dominant -moderate elevation of TG and/or TC -premature CHD with positive family history -NO xanthomas or xanthelesmas |
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Type III Hyperlipoproteinemia
-defect -inheritance -lipid levels -clinical manifestations |
-mutation in Apo-E - defective binding of remnants of VLDL, IDL and chylomicrons to LDL receptors
-autosomal recessive -moderate to severe elevation of TG and TC (300-400) -palmar xanthomas are diagnostic - premature CHD, vascular disease , xanthomas and xanthelesmas |
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Lipoprotein lipase deficiency
-defect -inheritance -lipid levels -clinical manifestations |
-mutation in the LPL gene - decrease clearance of chylomicrons
-autosomal recessive -elevated TG -PANCREATITIS, eruptive xanthomas, lipemia retinalis |
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Apo CII deficiency
-defect -inheritance -lipid levels -clinical manifestations |
-mutation resulting in absence of apo-CII which is a cofactor for LPL
-autosomal recessive -phenotypically similar to LPL deficiency: elevated TG, pancreatitis, eruptive xanthomas, lipemia retinalis |
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Familial hypertriglycerideimia
-defect -inheritance -lipid levels -clinical manifestations |
-unknown genetic defect - overproduction of large TG rich VLDL
-autosomal dominant -elevated TG, low HDL, normal TC |
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Secondary Lipoproteinemias (7)
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1. DM
2. Hypothyroid 3. Estrogen therapy 4. EtOH consumption 5. Nephrotic syndrome 6. Cholestasis 7. Medication |
