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CPR Midterm > Biochem > Flashcards

Biochem Flashcards

1
Q

primary hyperlipoproteinemias: Sitosterolemia

A

gene mutation:ABCG5
ABCG8

Elevated lipoproteins: LDL

Sx: Tendon xanthomas, CDH

incidence: <1/1mil

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2
Q

primary hyperlipoproteinemias: familial hypercholesterolemia

A

gene mutation: LDL receptor

Elevated lipoproteins: LDL

Sx: Tendon xanthomas, CDH

incidence: 1/500

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3
Q

primary hyperlipoproteinemias: familial dysbetalipoproteinemia

A

gene mutation: Ape

Elevated lipoproteins: Chylomicrons
VLDL remnants

Sx: Palmar and tuberoeruptive xanthomas, CHD, PVD

incidence: 1/10,000

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4
Q

primary hyperlipoproteinemias: familial hypertriglyceridemia

A

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

Elevated lipoproteins: VLDL and plasma triglycerides

Sx: early coronary artery disease

incidence: 1/500

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5
Q

Describe the diagnostic tests for: homozygous familial hypercholesterolemia

A

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

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6
Q

Describe the diagnostic tests for: Sitosterolemia

A

High plasma sitosterol on gas chromatography

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7
Q

Describe the diagnostic tests for:familial dysbetalipoproteinemia

A

Lipoprotein electrophoresis
Ultracentrifugation
apoE phenotyping/genotyping

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8
Q

Describe the diagnostic tests for : familial hypertriglyceridemia

A

High plasma triglycerides
Normal cholesterol
Low plasma HDL-C

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9
Q

treatment options for hyperlipoproteinemias: effects of Diet and exercise

A

Lower triglyceride levels

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10
Q

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

A

Increase LPL (lipoprotein lipase) and decrease VLDL synthesis

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11
Q

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

A

Increase triglyceride catabolism; increase plasma LDL-C

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12
Q

treatment options for hyperlipoproteinemias: Niacin (nicotinic acid)

A

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

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13
Q

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

A

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

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14
Q

treatment options for hyperlipoproteinemias: Ezelimibe

A

Inhibit cholesterol absorption in small intestine by LDL receptors

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15
Q

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

A

Increase bile acid excretion and increase LDL receptors

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16
Q

Discuss the secondary causes of lipoprotein metabolism disorders:

A

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

Obesity

Diabetes mellitus

hypothyroidism

Liver disorders

ETOH

Estrogen

CPR Midterm (15 decks)

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