A/49 Flashcards
1
Q
Type of heredity of FamHC?
A
autosomal dominant
2
Q
Frequency of familial hypercholesterolemia?
A
1 / 500
3
Q
Difference between homozygotes and heterozygotes in familial hypercholesterolemia?
A
- heterozygotes : 2-3 increase of cholesterol level
- homozygotes : up to 5x increase & younger
4
Q
Clinical presentations of familial hypercholesterolemia? (2)
A
- skin and tendon sheath xanthomas
- premature AS
5
Q
Drugs used to treat familial hypercholesterolemia?
A
Statins
6
Q
Pathogenesis of FamHC?
A
- Impaired transport of LDL : high plasma levels
- Impaired IDL