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STEP 1 > Lipid diseases > Flashcards

Lipid diseases Flashcards

1
Q

Autosomal Recessive.

Mutation in microsomal transfer protein (MTP)

A

Abetalipoproteinemia

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2
Q

Infants present with severe
fat malabsorption,
steatorrhea,
failure to thrive.

A

Abetalipoproteinemia

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3
Q

Lipoprotein lipase or apolipoprotein C-II deficiency

A

Hyper chylomicronemia

I

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4
Q

Defective/absent LDL receptors
or
Defective ApoB-100

A

Familial Hypercholesterolemia

II

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5
Q

Defective ApoE

A

Dysbeta-lipoproteinemia

III

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6
Q

Hepatic overproduction of VLDL

A

Hyper Triglyceridemia

IV

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7
Q

Blood levels:
↑ TG
↑ Cholesterol
↑ Chylomicrons

A

Hyper chylomicronemia

I

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8
Q

Blood levels:
↑ Cholesterol
↑ LDL

A

Familial Hypercholesterolemia

IIa

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9
Q

Blood levels:
↑ Chylomicrons
↑ VLDL

A

Dysbeta-lipoproteinemia

III

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10
Q

Blood levels:
↑TG
↑VLDL

A

Hyper Triglyceridemia

IV

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11
Q

Pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no risk for atherosclerosis).

Creamy layer in supernatant

A

Hyper chylomicronemia

I

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12
Q

Heterozygotes (1:500) have cholesterol ≈ 300 mg/dL

homozygotes (very rare) have cholesterol ≥ 700 mg/dL.

A

Familial Hypercholesterolemia

II

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13
Q

Premature atherosclerosis, tuberoeruptive and palmar xanthomas

A

Dysbeta-lipoproteinemia

III

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14
Q

TG (> 1000 mg/dL) can cause acute pancreatitis.

Related to insulin resistance.

A

Hyper Triglyceridemia

IV

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15
Q

Deficiency in ApoB-48, ApoB-100

A

Abetalipoproteinemia

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16
Q

Chylomicrons, VLDL, LDL absent

A

Abetalipoproteinemia

17
Q 
Later manifestations include: 
retinitis pigmentosa, 
spinocerebellar degeneration (vit E deficiency)
Ataxia, 
acanthocytosis.
A

Abetalipoproteinemia

18
Q

Treat with Long chain Fatty acid restriction

oral vitamin E

A

Abetalipoproteinemia

19
Q

Intestinal biopsy shows lipid-laden enterocytes

A

Abetalipoproteinemia

20
Q

Blood levels:
↑ Cholesterol
↑ LDL
↑ VLDL

A

Familial Hypercholesterolemia

IIb

21
Q

Accelerated atherosclerosis
(may have MI before age 20),
Tendon (Achilles) xanthomas,
corneal arcus (cholesterol in iris)

A

Familial Hypercholesterolemia

II

22
Q

no risk for atherosclerosis

A

Hyper chylomicronemia

I

23
Q

May have MI before age 20

A

Familial Hypercholesterolemia

II

24
Q 
Chylomicron enters lympatics
HDL transfers Apo C2 and Apo E
Chylomicron Apo C2 activates LPL
Liver Release VLDL
VLDL Apo C2 activates LPL
IDL delivers TGs & Cholesterol to Liver via Apo E
Endocytosis of LDL

STEP 1 (88 decks)

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