Lipid Transport Disorders Flashcards

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1
Q

Which one of hte following findings is not assocaited with chylomicronemia?
A. Creamy supernatant in blood
B. Eruptive xanthomas
C. Hepatosplenamegaly
D. Lipemia retinalis
E. Tendon xanthomas

A

E. Tendon xanthomas

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2
Q

What is the hallmark blood finding in chylomicronemia?

A

↑↑↑ triglycerides in blood
- this can induce pancreatitis, but also pancreatitis can cuase ↑TG which is important clinically
- if TG is very high in blood you will get layer of fat in fridge (can be 20%)
- blood can look milky
high levels of chylomicrons as well

must be fasting

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3
Q

Which proteins can be effected by chylomicronemia?

A

ApoC II
LPL
ApoC V

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4
Q

Which condition is associated with recurrent pancreatitis?

A

chylomicronemia
acute pancreatitis is more like a stabbing knife pain that refers to the back. Recurrent is more like smoldering and can be a pain that people just deal with.
leads to calcificaiton of the pancreas

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5
Q
A
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6
Q

Patients presents with…

LDL chlesterol = 350 g/dL
tendon xanthomas
Your patient’s defect of cholesterol metabolism is most likely caused by what mechanism?

A

Defective gene for synthesis or assembly of LDL receptors

Familial Hypercholesterolemia

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7
Q

Apolioprotein B (apoB) is very important to normal cholesterol metabolism. What is a good way to describe the phenotype in patients with apoB defect?

A

These patients have a variable phenotype ranging from few clinical signs to familial hypercholesterolemia

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8
Q

Which one of the following is not included in the clinical measurement of “non-HDL cholesterol”?
A. Cholesterol in IDL
B. Cholesterol in LDL
C. Cholesterol in Lp(a)
D. Cholesterol in plasma membrances
E. Cholesterol in VLDL

A

D. Cholesterol in plasma membrances

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9
Q

Which one of the following findings is not expected in patietns with familial hypercholesterolemia?
A. Atherosclerosis
B. Lipemia retinalis
C. Recurrent pancreatitis
D. Tendon xanthomas
E. Xanthelasmas

A

C. Recurrent pancreatitis

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10
Q

Your started your patient on orlistat and he now complains of diarrhea and incontenence. Which enzyme has been inhibited?

A

Pancreatic lipase
Orlistat is an inhibitor of pancreatic and gastric lipases. Can be effective in some patients recalcitrant to fibrates which activate peroxisome peroxisome
proliferator-activated receptor α
(PPARα) that results in the lowering
plasma TG and increasing HDL

Treatments for PRIMARY HYPERTRIGLYCERIDEMIAS such as chylomicronemia

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11
Q

Familial hypercholestrolemia is caused by a genetic deficiency of…

A

LDL receptors

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12
Q

Which receptor on the liver cell takes up Apolipoprotein B?

A

LDL receptor

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13
Q

Which receptor on the liver cell takes up Apolipoprotein E?

A

Remnant receptor
ApoE is attached to IDL and Chylomicron Remnant and allows them both to enter the liver through the LDL Receptor Related Protein (LRP)/Heparin Sulfate Proteon Glycin (HSPG)

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14
Q

Which receptor on the liver cell takes up HDL particles?

A

SR-B1 (Scavenger Receptor Class B1)

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15
Q

What is the site of action for ezetimibe?

A

Niemann-Pick C1 like protein
ezetimibe acts to lower cholesterol uptake by blocking the absoprtion meechanism of micelles
In the intestinal lumen, cholesterol is emulsified to form micelles, which are
taken up by mucosal cells through a poorly defined transport mechanism at the brush border involving a protein
called NPC1L1 (Niemann-Pick C1-like 1 protein)

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16
Q

What is the site of action for statins?

A

HMG-CoA Reductase
Statins are HMG-CoA reductase inhibitors.
They work by competing for binding with HMG based on similarity of chemical structure. Inhibition of
de novo cholesterol synthesis results in the up-regulation of LDL receptor synthesis via the SREBP-mediated
pathway discussed earlier with the net result is the lowering of plasma LDL level

17
Q

What is the site of action of plant stanol/sterol?

phylosterols

A

Biliary micelles
Plant sterols (phytosterols) and excessive mucosal cellular cholesterol are transported back into the intestinal
lumen through ATP-dependent transporter encoded by the genes ABCG5/ABCG8.
Phytosterols, found in margarines and vegetable oil spreads and salad dressings containing esters of plant sterols, have been shown to reduce plasma cholesterol level. The exact mechanism is likely
to be complicated, but may involve competition for uptake, increased ABCG5/ABCG8 activity, displacement of cholesterol from the micelles or
inhibition of esterification by ACAT.

18
Q

Choose from the list of proteins an inactivating mutation or polymorphism associated with chylomicronemia.
A. ABC A1
B. Apolipoprotein E
C. LDL receptor
D. Lipoprotein lipase
E. Microsomal transfer protein

A

D. Lipoprotein lipase

19
Q

Choose from the list of proteins an inactivating mutation orpolymorphism assocaited with familial hypercholesterolemia.
A. ABC A1
B. Apoliprotein E
C. LDL receptor
D. Lipoprotein lipase
E. Microsomal transfer protein

A

C. LDL receptor

20
Q

Choose from the lsit of proteins an inactivating mutation or polymorphism associated with Tangiers disease.
A. ABC A1
B. Apolipoprotein E
C. LDL receptor
D. Lipoprotein lipase
E. Microsomal transfer protein

A

A. ABC A1

21
Q

Tangier’s Disease

A

ABCA-1 is an efflux protein on macrophages that allows cholesterol and cholesterol esters to leave macrophages and be picekd up by HDL.
This is an efflux disorder and is an issue with the Reverse Pathway.
Increased risk of heart disease.
Autosomal Recessive

22
Q
A