Quiz 3: Lipids Disorders/Diseases

Question 1

Type I hyperlipoproteinemia: elevated chylomicrons

Answer 1

Serum appearance: Creamy layer of chylomicrons over clear serum
Total cholesterol: normal - moderately elevated
Triglyceride: Extremely elevated

Question 2

Type IIa hyperlipoproteinemia: Increased LDL

Answer 2

Serum appearance: Clear
Total cholesterol: Generally elevated
Triglyceride: Normal

Question 3

Type IIb hyperlipoproteinemia: Increased LDL and VLDL

Answer 3

Serum appearance: Clear or slightly turbid
Total cholesterol: Elevated
Triglyceride: Elevated

Question 4

Type III hyperlipoproteinemia: Increased IDL

Answer 4

Serum appearance: Creamy layer sometimes over a turbid layer
Total cholesterol: Elevated
Triglyceride: Elevated

Question 5

Type IV hyperlipoproteinemia: Increased VLDL

Answer 5

Serum appearance: Turbid
Total cholesterol: Normal - slightly elevated
Triglyceride: Moderately - severely elevated

Question 6

Type V hyperlipoproteinemia: Increased VLDL and chylomicrons

Answer 6

Characterized by increased VLDL and chylomicrons
Serum appearance: Turbid with creamy layer
Total cholesterol: Slightly - moderately elevated
Triglyceride: Severely elevated

Question 7

Familial Combined Hyperlipidemia (FCHL)

Answer 7

Most common familial form, increased plasma levels of total cholesterol and LDL, or triglycerides, HDL may be decreased

Question 8

Hyperapobetalipoproteinemia

Answer 8

VLDL and B-100 overproduction in Liver
LDL: normal - moderate elevation
Total cholesterol/triglyceride: normal - elevated
HDL: decreased

Question 9

Familial hypertriglyceridemia

Answer 9

Characterized by moderate elevation of triglycerides and excessive VLDL production, cholesterol is also increased
HDL is decreased
Secondary Causes: Hormonal imbalance, Diabetes mellitus (increased fatty acid synthesis), Nephrosis
+ Can cause pancreatitis
Treatment- diet, drugs if needed

Question 10

Familial Hypercholesterolemia

Answer 10

Characterized by increased LDL cholesterol due to deficient LDL receptor
Plasma triglyceride: normal - slightly increased
Plasma HDL cholesterol: slightly decreased
Treatment: Low fat low cholesterol diet, Physical activity, Statins or drugs if needed

Question 11

Secondary lipoproteinemia

Answer 11

Conditions that cause abnormal metabolization of lipoproteins:
diabetes mellitus
hypothyroidism
obesity
pregnancy
nephrotic syndrome
pancreatitis
alcoholism
myxedema

Question 12

Abetalipoproteinemia (hypolipoproteinemia)

Answer 12

Total cholesterol very low, triglycerides extremely low, no LDL

Question 13

Hypobetalipoproteinemia (hypolipoproteinemia)

Answer 13

Low total cholesterol, normal - low triglyceride level

No increased risk of coronary heart disease

Question 14

Hypoalphalipoproteinemia (hypolipoproteinemia)

Answer 14

Severely elevated triglyceride level, low HDL

Increased risk of coronary heart disease

Question 15

Tangier Disease

Answer 15

No HDL, LDL low, total cholesterol low, triglyceride level low to slightly increased
Increased risk of coronary heart disease
Genetic deficiency of transporter protein (Cannot get cholesterol out of cells)

Question 16

Arteriosclerosis

Answer 16

Disease of the arteries, thickening, hardening, loss of elasticity in artery walls

Question 17

Atherosclerosis

Answer 17

Gr. sklerosis, hardness, indicates cholesterol-lipid-calcium deposits in artery walls.

Question 18

Potential consequences of hyperlipidemias

Answer 18

Coronary artery disease (CAD): Angina, Myocardial Infarcts
Peripheral vascular disease (PVD): plaque in arteries in arms and legs
Coronary vascular disease (CVD): vessels in brain

Question 19

Treatment options to lower the risk of coronary heart disease

Answer 19

Reduce hepatic cholesterol synthesis: statins (Reduces LDL)
Reduce cholesterol absorption from GI: ezetimibe
Reduce bile acid absorption from GI: resins
Decrease secretion of lipoproteins: niacin (Reduces LDL and increases HDL)
Increase peripheral clearance of lipoproteins: fibrates (Reduces Trig and VLDL and increases HDL)

Question 20

Gaucher disease

Answer 20

Most common lipid storage disorder
Enzyme deficiency: glucocerebrosidase
Fatty material collects in spleen, liver, kidneys, lung, brain, and bone marrow
Treated with enzyme replacement therapy

Question 21

Niemann-Pick disease

Answer 21

Fat and cholesterol in cells of liver, spleen, bone marrow, lungs and brain – no cure

Question 22

Fabry disease - x-linked disease

Answer 22

Enzyme deficiency: alpha-galactosidase-A
Fatty build up in nervous system, eyes, kidneys, CVS
Treated with enzyme replacement therapy

Question 23

Farber’s disease

Answer 23

Enzyme deficiency: ceramidase

Fatty build up in joints, tissues, and central nervous system. Corticosteroids to relieve pain.

Question 24

Gangliosidoses

Answer 24

Abnormal storage of lipid in nerve cells
GM1. Enzyme deficiency- beta-galactosidase
GM2. Enzyme deficiency beta-hexosaminidase
Tay-Sachs disease- no treatment, Anticonvulsant therapy
Sandhoff disease