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12 Cards in this Set
- Front
- Back
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What is familial dyslipidemia 1?
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Hyper chylomicronemia
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What is increased in FD 1?
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Chylomicrons, TG, cholesterol
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What symptoms come from FD1?
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Pancreatitis, eruptive/pruritic xanthomas
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What is familial dyslipidemia 2a?
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Familial hypercholesterolemia
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What is increased in FD2a?
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LDL, cholesterol
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What symptoms come from FD2a?
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Absent or dec LDL receptors
Accelerated atherosclerosis, tendon xanthomas and corneal arcus |
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What is familial dyslipidemia 4?
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Hypertriglyceridemia
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What is increased with FD4?
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VLDL, TG
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What are the symptoms of FD4?
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Hepatic overproduction of VLDL, causes pancreatitis
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What is the defect in abetalipoproteinemia?
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Mutation in MTP gene = Dec B48 and B100 = dec chylomicron and VLDL synthesis and secretion
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What are the symptoms of abetalipoproteinemia?
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Failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
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What does an intestinal biopsy show with abetalipoproteinemia?
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Lipid accumulation within enterocytes due to inability to export absorbed lipid as chylomicron
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