(4.6) Primary Hyperproteinemias

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Last updated 7:47 AM on 4/28/26
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6 Terms

1
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Hyperchylomicronemia

Phenotype: I

Increased Fractions: TG, Chylomicrons

Plasma Appearance: Cream layer over clear plasma

Primary Defect: LPL or Apo C-II deficiency

2
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Hyperbetalipoproteinemia

Phenotype: IIA

Increased Fractions: LDL, TC

Plasma Appearance: Clear

Primary Defect: LDL receptor mutation

3
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Combined Hyperlipidemia

Phenotype: IIB

Increased Fractions: LDL, VLDL, TG

Plasma Appearance: Turbid

Primary Defect: Decreased LDL clearance

4
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Dysbetalipoproteinemia

Phenotype: III

Increased Fractions: TC, TG, IDL

Plasma Appearance: Turbid

Primary Defect: Defective Apo E

5
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Hyperprebetalipoproteinemia

Phenotype: IV

Increased Fractions: VLDL, TG

Plasma Appearance: Turbid

Primary Defect: VLDL overproduction/decreased clearance

6
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Mixed Hyperlipoproteinemia

Phenotype: V

Increased Fractions: Chylomicrons, VLDL, TC, TG

Plasma Appearance: Cream layer over turbid plasma

Primary Defect: Multiple factors (LPL/Apo C-II/VLDL)