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7 Cards in this Set
- Front
- Back
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Type I Hyperlipidemia = hypertriglyceridemia
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- recurrent bouts of pancreatitis and xanthomas
* very high plasma triglycerides reduced or absent LPL (or apoCII) * lack of hydrolysis of chylomicrons and VLDL Treatment: avoid alcohol, diet supplemented with short chain fatty acids |
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How is Type I hyperlipidemia distinguished from familial hypertriglyceridemia?
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Familial hypertriglyceridemia = Type IV characterized by hypertriglyceridemia that isn't associated with clinical signs or corneal arcus or xanthomas
* the VLDL concentration is high but the LDL and HDL remain low because this is due to a hepatic overproduction or VLDL coupled with defective clearance of VLDL |
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Familial Hypercholesterolemia (FH) = Type II
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*caused by a mutation in the LDL-receptor - therefore see elevated LDL concentrations
*corneal arcus/ tendinous xanthomas/ xanthelasmas * heterozygotes respond to statin drugs - homo's DO NOT |
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Familial type III hyperlipoproteinemia= broad beta band disease
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* show tuberous xanthomas and palmar striated xanthomas
*increases in both triglycerides and cholesterol(contained within chylo remnants) & low HDL concentrations |
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Tangier Disease?
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Characterized by:
-organe tonsils - undetectable HDL cholesterol - Hepatosplenomegaly |
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What is the common mutation in Tangier's Disease?
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ABCA1 mutation
ABCA1 appears to shuttle from the late endosomal compartment to the plasma membrane = membrane bound transporter of phospholipds *hydroxysterols regulate ABCA1 through LXR/RXR nuclear receptor pathway * ABCA1 undergoes phosphoryalation to PKA and acts as a receptor for Apo AI |
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Apo B defects
<40 vs. >50 to <75 |
Apo B less than 40 can't make chylos = this leads to low plasma cholesterol levels and triglyceride concentrations and fat soluble vitamin deficiencies
Between 50 and 75: phenotype is high LDL because the mutation allows VLDL to be produced but interferes with the binding to the LDL-R |
