Familial Dislipidemias Flashcards
Function: CETP
Mediates transfer of CH esters to other lipoprotein particles in exchange for TGs
Function: LCAT
Esterifies CH in HDL (packs densely in core, creating mature HDL)
Increased blood level:
Hyperchylomicronemia (type I)
Chylomicrons
TG
CH
Clinical:
Hypertriglyceridemia (type IV)
CAD/PVD
Eruptive xanthomas
Increased blood level:
Hypertriglyceridemia (type IV)
VLDL
TG
Clinical:
Hyperchylomicronemia (type I)
[5]
Pancreatitis (recurrent) Hepatosplenomegaly Eruptive/pruritic xanthomas (NO increased risk for atherosclerosis) Creamy layer in supernatant
Inheritance: Familial hypercholesterolemia (type II)
AD
Function: Apo C-II
LPL cofactor
Inheritance:
Hyperchylomicronemia (type I)
AR
Pathogenesis: Familial hypercholesterolemia (type II)
Absent/defective LDL receptors
Function: Apo E
Mediates remnant uptake
Increased blood level: Familial hypercholesterolemia (type II)
IIa: LDL, CH
IIb: LDL, CH, VLDL
Function: Apo A-I
Activates LCAT
Pathogenesis:
Dysbetalipoproteinemia (type III)
Defective ApoE
Clinical: Familial hypercholesterolemia (type II)
Accelerated atherosclerosis (MI < age 20) Tendon (Achilles) xanthomas Corneal arcus
Inheritance:
Dysbetalipoproteinemia (type III)
AR
Pathogenesis:
Hyperchylomicronemia (type I)
LPL or C-II deficiency
Function: Apo B-100
Binds LDL receptor
Clinical:
Dysbetalipoproteinemia (type III)
Premature atherosclerosis
Tuberoeruptive xanthomas
Xanthoma striatum palmare
Inheritance:
Hypertriglyceridema (type IV)
AD
Function: Apo B-48
Mediates chylomicron secretion into lymphatics
Increased blood level:
Dysbetalipoproteinemia
Chylomicrons
VLDL
Pathogenesis:
Hypertriglyceridema (type IV)
Hepatic overproduction of VLDL
