Familial Dislipidemias Flashcards
1
Q
Function: CETP
A
Mediates transfer of CH esters to other lipoprotein particles in exchange for TGs
2
Q
Function: LCAT
A
Esterifies CH in HDL (packs densely in core, creating mature HDL)
3
Q
Increased blood level:
Hyperchylomicronemia (type I)
A
Chylomicrons
TG
CH
4
Q
Clinical:
Hypertriglyceridemia (type IV)
A
CAD/PVD
Eruptive xanthomas
5
Q
Increased blood level:
Hypertriglyceridemia (type IV)
A
VLDL
TG
6
Q
Clinical:
Hyperchylomicronemia (type I)
[5]
A
Pancreatitis (recurrent) Hepatosplenomegaly Eruptive/pruritic xanthomas (NO increased risk for atherosclerosis) Creamy layer in supernatant
7
Q
Inheritance: Familial hypercholesterolemia (type II)
A
AD
8
Q
Function: Apo C-II
A
LPL cofactor
9
Q
Inheritance:
Hyperchylomicronemia (type I)
A
AR
10
Q
Pathogenesis: Familial hypercholesterolemia (type II)
A
Absent/defective LDL receptors
11
Q
Function: Apo E
A
Mediates remnant uptake
12
Q
Increased blood level: Familial hypercholesterolemia (type II)
A
IIa: LDL, CH
IIb: LDL, CH, VLDL
13
Q
Function: Apo A-I
A
Activates LCAT
14
Q
Pathogenesis:
Dysbetalipoproteinemia (type III)
A
Defective ApoE
15
Q
Clinical: Familial hypercholesterolemia (type II)
A
Accelerated atherosclerosis (MI < age 20) Tendon (Achilles) xanthomas Corneal arcus
