Familial Dyslipidemias Flashcards
1
Q
I - Hyperchylomicronemia
A
Auto recessive
Def in LPL or apo C –> inc chylomicrons, TGs and cholesterol (cannot be degraded peripherally)
Pancreatitis and xanthomas
2
Q
II - Familial Hypercholesterolemia
A
Auto Dom (common problem)
Absent or defective LDL receptors –> inc LDL and cholesterol +/- VLDL
Early atherosclerosis
3
Q
III - Dysbetalipoproteinemia
A
Auto recessive
Defective Apo E (needed for remnant uptake) –> inc chylomicrons and VLDL
Early atherosclerosis and xanthomas
4
Q
IV - Hypertriglyeridemia
A
Auto Dom
Hepatic overproduction of VLDL –> more VLDL and more TGs as LPLs degrade extra VLDL
Acute pancreatitis
