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5 Cards in this Set
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Clinical Association: Rare Childhood Disease
Laboratory Findings: Increased chylomicron and Triacylglycerol, normal cholesterol and LDL. Standing Chylomicron test - Supranate but no infranate |
Type I: Familial Lipoprotein Lipase Deficiency; ApoC-II Deficiency
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Pathogenesis: Inability to hydrolyze chylomicrons
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Clinical Association:
Autosomal dominant disorder with premature coronary artery disease Achilles tendon xanthomas are pathognomonic Acquired causes - diabetes, hypothyroidism, obstructive jaundice, progesterone in birth control pills Lab Findings: A - Increased LDL (often >260mg/dL) and cholesterol, normal triacylglycerol B - Increased LDL, cholesterol, and triacylglycerol |
Type II: Familial Hypercholesterolemia
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Pathogenesis: Absent or defective LDL receptors
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Clinical Association:
Increased risk for coronary artery disease Hyperuricemia, obesity, diabetes Lab Findings: Cholesterol and Triacylglycerol equally increased Increased chylomicron and IDL remnants |
Type III: Familial dysbetalipoproteinemia "remnant disease"
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Pathogenesis: Deficiency of apoE; chylomicron and IDL remnant are not metabolized in liver
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Clinical Association:
Autosomal Dominant Most common hyperlipoproteinemia Increased triacylglycerol begins at puberty Increased incidence of coronary artery disease and peripheral vascular disease Acquired causes - alcoholism, diuretics, beta blockers, renal failure Lab Findings: Very increased triacylglycerol Slightly increased cholesterol Standing chylomicron test - turbid infranate Decreased HDL (inverse relationship with VLDL) |
Type IV: Familial Hyperglyceridemia
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Pathogenesis: Decreased catabolism or increased synthesis of VLDL
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Clinical Associations:
Particularly common in alcoholics and individuals with diabetic ketoacidosis Hyperchylomicronemia syndrome - Abdominal pain, pancreatitis, dyspnea (impaired oxygen exchange), hepatosplenomegaly (fatty change), papules on skin Lab Findings: Very increased triacylglycerol Normal LDL Standing chylomicron test - supranate and infranate |
Type V: Most commonly a familial hypertriglyceridemia with exacerbating factors
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Pathogenesis: Combination of type I and type IV mechanisms.
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