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Familial Dyslipidemias

Type Inheritance Pathogenesis ↑ Blood Levels Clinical
I—Hyperchylomicronemia AR Lipoprotein or apolipoprotein C-II deficiency Chylomicrons, TG, cholesterol Pancreatitis, hepatosplenomegaly, lipemia retinalis and eruptive/pruritic xanthomas (no ↑ risk for atherosclerosis). Creamy layer in supernatant.
II—Familial hypercholesterolemia AD Absent or defective LDL receptors, or defective ApoB-100 IIa: LDL, cholesterol

IIb: LDL, cholesterol, VLDL

Heterozygotes (1:500) have cholesterol ≈ 300mg/dL; homozygotes (very rare) have

cholesterol ≈ 700+ mg/dL. Accelerated atherosclerosis (may have MI before age 20), tendon (Achilles) xanthomas, xanthelasmas and corneal arcus.

III—Dysbetalipoproteinemia AR Defective ApoE3 & E4 Chylomicrons, VLDL Premature atherosclerosis, tuberoeruptive & palmar xanthomas.
IV—Hypertriglyceridemia AD Polygenic protein defect → hepatic overproduction of VLDL VLDL, TG Hypertriglyceridemia (>1000 mg/dL) can cause acute pancreatitis, coronary artery disease. Related to insulin resistance.

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