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Flashcards in Biochem Deck (16):
1

primary hyperlipoproteinemias: Sitosterolemia

gene mutation:ABCG5
ABCG8

Elevated lipoproteins: LDL

Sx: Tendon xanthomas, CDH

incidence: <1/1mil

2

primary hyperlipoproteinemias: familial hypercholesterolemia

gene mutation: LDL receptor

Elevated lipoproteins: LDL

Sx: Tendon xanthomas, CDH

incidence: 1/500

3

primary hyperlipoproteinemias: familial dysbetalipoproteinemia

gene mutation: Ape

Elevated lipoproteins: Chylomicrons
VLDL remnants

Sx: Palmar and tuberoeruptive xanthomas, CHD, PVD

incidence: 1/10,000

4

primary hyperlipoproteinemias: familial hypertriglyceridemia

gene mutation: Unknown (ApoA-V? LPL or apoC-2?)

Elevated lipoproteins: VLDL and plasma triglycerides

Sx: early coronary artery disease

incidence: 1/500

5

Describe the diagnostic tests for: homozygous familial hypercholesterolemia

Skin biopsy measures LDL receptor activity in fibroblasts
Cell sorting measures LDL receptors on lymphocytes
DNA sequencing defines mutations in LDL receptor

6

Describe the diagnostic tests for: Sitosterolemia

High plasma sitosterol on gas chromatography

7

Describe the diagnostic tests for:familial dysbetalipoproteinemia

Lipoprotein electrophoresis
Ultracentrifugation
apoE phenotyping/genotyping

8

Describe the diagnostic tests for : familial hypertriglyceridemia

High plasma triglycerides
Normal cholesterol
Low plasma HDL-C

9

treatment options for hyperlipoproteinemias: effects of Diet and exercise

Lower triglyceride levels

10

treatment options for hyperlipoproteinemias: Fibrate drugs (fibric acid derivatives: gemfibrozil, fenofibrate)

Increase LPL (lipoprotein lipase) and decrease VLDL synthesis

11

treatment options for hyperlipoproteinemias: Fish/flaxseed oils (omega 3 fatty acids)

Increase triglyceride catabolism; increase plasma LDL-C

12

treatment options for hyperlipoproteinemias: Niacin (nicotinic acid)

Decrease VLDL production; agonist of PPARa a regulator of lipid metabolism

13

treatment options for hyperlipoproteinemias: Statins (lovastatin, pravastatin, simvastatin)

Inhibit HMG-CoA reductase= decrease cholesterol biosynthesis; increase hepatic LDL receptors

14

treatment options for hyperlipoproteinemias: Ezelimibe

Inhibit cholesterol absorption in small intestine by LDL receptors

15

treatment options for hyperlipoproteinemias: Bile acid sequestrants (sholestyramine, cholestipol)

Increase bile acid excretion and increase LDL receptors

16

Discuss the secondary causes of lipoprotein metabolism disorders:

any dx that causes dyslipidemia; increase free fatty acids; Increase plasma triglycerides:

Obesity

Diabetes mellitus

hypothyroidism

Liver disorders

ETOH

Estrogen