LEC: Lipid-Cardiac Function Tests Part 2

Question 1

Associated with defective apoB synthesis or metabolism, leading to low or nonexistent levels of apo-B lipoproteins such as CM, VLDL and LDL

Answer 1

Isolated Low Total Cholesterol

Question 2

Which does not belong to the group?
Abetalipoproteinemia
Hypobetalipoproteinemia
Familial Hypoalphalipoproteinemia
Chylomicron retention disease

Answer 2

Familial Hypoalphaproteinemia

Question 3

Premature degradation of apoB due to defects in
the hepatic microsomal transport protein, which
is essential for apoB secretion. And neither apoB-48 or apoB-100 is present in the plasma

Answer 3

Abetalipoproteinemia

Question 4

Causes fat soluble vitamin deficiencies (A, E, K) due to
malabsorption.

Answer 4

Abetalipoproteinemia

Question 5

This vitamin does not require
chylomicrons for absorption and therefore is not
typically deficient

Answer 5

Vitamin D

Question 6

Nonsense or missense mutations in the apoB
gene leading to very low LDL-C levels

Answer 6

Hypobetalipoproteinemia

Question 7

Hypobetalipoproteinemia can be treated with?

Answer 7

high dose vitamin E (100-300
mg/kg/day)

Question 8

Disorder where only B-48 is affected and is associated with SARA2 gene on chromosome 5q3

Answer 8

Chylomicron retention disease

Question 9

Total cholesterol levels in homozygous individuals with hypobetalipoproteinemia

Answer 9

<50 mg/dL

Question 10

Associated with CHD because insufficient HDL is available to participate in reverse cholesterol transport,
the process by which cholesterol is eliminated from peripheral tissue

Answer 10

Isolated Low HDL-C

Question 11

What are the disorders associated with isolated low HDL-C?

Answer 11

• Familial hypoalphalipoproteinemia
• ApoA-1 deficiency and ApoC-III deficiency
• ApoA-1 variants
• Tangier disease
• Lecithin: Cholesterol Acyltransferase (LCAT) deficiency

Question 12

Disorder where there is hepatic lipase or apoA-I/C-III/A-IV gene defects and mutations in the ABCA1 gene. Premature CHD is also present

Answer 12

Familial Hypoalphaproteinemia

Question 13

IDENTIFY:
- Autosomal recessive. Mutations in the ApoA-1 gene and deletions. Gene rearrangements at the apoA-1/C-III/A-IV gene locus on the long arm of chromosome
11

Answer 13

ApoA-1 deficieny and ApoC-III deficiency

Question 14

IDENTIFY:
- Amino acid substitution in the ApoA-1 gene
- Increase catabolism of HDL and ApoA-I

Answer 14

ApoA-1 variants

Question 15

It is autosomal dominant and the only disorder in isolated low HDL-C that is not associated with premature CHD

Answer 15

ApoA-1 Milano

Question 16

IDENTIFY:
- Autosomal recessive
- Low cholesterol and high triglycerides
- ABCA1 protein enables cholesterol to exit the
cell where it combines with ApoA-I to form the
HDL. In the absence of ABCA1 activity,
cholesterol accumulates in cells

Answer 16

Tangier disease

Question 17

Without this, most cholesterol remains unesterified and HDL synthesis is impeded

Answer 17

LCAT

Question 18

IDENTIFY:
- HDL-C levels are <10 mg/dL
- Total cholesterol are normal to high

Answer 18

Classic (complete) familial LCAT deficiency

Question 19

Form of LCAT deficiency that is associated with premature CHD

Answer 19

Partial deficiency (Fish-eye disease)

Question 20

In familial hypoalphaproteinemia, Men have HDL-C levels ______ and women have HDL-C levels _______

Answer 20

<30 mg/dL and <40 mg/dL, respectively