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COMLEX 1 > Familial Dyslipdemias > Flashcards

Familial Dyslipdemias Flashcards

1
Q

Abetalipoproteinemia - inheritance

A

AR

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2
Q

Abetalipoproteinemia - pathogenesis

A

deficiency in ApoB-48, ApoB-100 -> chylomicrons, VLDL, LDL absent

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3
Q

Abetalipoproteinemia - presentation

A

affected infants present with severe fat malabsorption, steatorrhea, failure to thrive
Later: retinitis pigmentosa, sphinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis

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4
Q

Abetalipoproteinemia - treatment

A

restriction of long chain fatty acids, large doses of oral vitamin E

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5
Q

Hyperchylomicronemia - inheritance

A

AR

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6
Q

Hyperchylomicronemia - pathogenesis

A

lipoprotein lipase or apolipoprotein C-II deficiency

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7
Q

Hyperchylomicronemia - increase blood level

A

chylomicrons
TG
cholesterol

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8
Q

Hyperchylomicronemia - clinical

A 
pancreatitis
hepatosplenomegaly
eruptive/pruritic xanthomas
(no increase risk for atherosclerosis)
creamy layer in supernatant
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9
Q

Familial hypercholesterolemia - inheritance

A

AD

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10
Q

Familial hypercholesterolemia - pathogenesis

A

absent or defective LDL receptors or defective ApoB-100

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11
Q

Familial hypercholesterolemia - increase blood level

A

IIa: LDL, cholesterol
IIb: LDL, cholesterol, VLDL

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12
Q

Familial hypercholesterolemia - clinical

A 
Heterozygotes: cholesterol ~300
Homozygotes: cholesterol ~700+
accelerated atherosclerosis (may have MI before 20)
tendon xanthomas (achilles)
corneal arcus
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13
Q

Dysbetalipoproteinemia - inheritance

A

AR

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14
Q

Dysbetalipoproteinemia - pathogenesis

A

defective ApoE

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15
Q

Dysbetalipoproteinemia - increase blood level

A

chylomicrons, VLDL

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16
Q

Dysbetalipoproteinemia - clinical

A

premature atherosclerosis
tuperoeruptive xanthomas
palmar xanthomas

17
Q

Hypertriglyceridemia - inheritance

A

AD

18
Q

Hypertriglyceridemia - pathogenesis

A

hepatic overproduction of VLDL

defect of LPL

19
Q

Hypertriglyceridemia - increase blood level

A

VLDL

TG

20
Q

Hypertriglyceridemia - clinical

A

hypertriglyceridemia (>1000) can cause acute pancreatitis
related to insulin resistance
abdominal discomfort with hepatosplenomegaly and eruptive xanthomas

COMLEX 1 (14 decks)

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