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--Step Shit-- > Hyperlipoproteinemias > Flashcards

Hyperlipoproteinemias Flashcards

1
Q

What is the inheritance for:

Abetalipoproteinemia

A

Autosomal Recessive

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2
Q

What is the inheritance for:
Hyperchylomicronemia
(Familial dyslipidemia type 1)

A

Autosomal Recessive

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3
Q

What is the inheritance for:
Familial hypercholesterolemia
(Familial dyslipidemia type 2)

A

Autosomal Dominant

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4
Q

What is the inheritance for:
Dysbetalipoproteinemia
(Familial dyslipidemia type 3)

A

Autosomal Recessive

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5
Q

What is the inheritance for:
Hypertriglyceridemia
(Familial dyslipidemia type 4)

A

Autosomal Dominant

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6
Q

What is the pathogenesis for:

Abetalipoproteinemia

A

Deficiency in ApoB-48 and ApoB-100

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7
Q

What is the pathogenesis for:
Hyperchylomicronemia
(Familial dyslipidemia type 1)

A

Lipoprotein lipase deficiency
or
Apolipoprotein C-II deficiency

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8
Q

What is the pathogenesis for:
Familial hypercholesterolemia
(Familial dyslipidemia type 2)

A

Absent or defective LDL receptors
or
Defective ApoB-100

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9
Q

What is the pathogenesis for:
Dysbetalipoproteinemia
(Familial dyslipidemia type 3)

A

Defective ApoE

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10
Q

What is the pathogenesis for:
Hypertriglyceridemia
(Familial dyslipidemia type 4)

A

Hepatic overproduction of VLDL

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11
Q

What levels are changed in the blood levels of:

Abetalipoproteinemia

A

Absent Chylomicrons
Absent VLDL
Absent LDL

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12
Q

What levels are changed in the blood levels of:
Hyperchylomicronemia
(Familial dyslipidemia type 1)

A

Inc Chylomicrons
Inc Triglycerides
Inc Cholesterol

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13
Q 
What levels are changed in the blood levels of:
Familial hypercholesterolemia
(Familial dyslipidemia type 2)
A

IIa:
inc LDL and inc Cholesterol

IIb:
inc LDL, inc Cholesterol, inc VLDL

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14
Q

What levels are changed in the blood levels of:
Dysbetalipoproteinemia
(Familial dyslipidemia type 3)

A

Inc Chylomicrons

Inc VLDL

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15
Q

What levels are changed in the blood levels of:
Hypertriglyceridemia
(Familial dyslipidemia type 4)

A

Inc VLDL

Inc TG

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16
Q

What is the clinical presentation of: ( 3 - 4 )

Abetalipoproteinemia

A

Infants present with:
Severe fat malabsorption
Steatorrhea
Failure to thrive

Later manifestations:
Retinitis pigmentosa
Spinocerebellar degeneration (low vit E)
Progressive ataxia
Acanthocytosis
17
Q

What is the clinical presentation of: ( 5 )
Hyperchylomicronemia
(Familial dyslipidemia type 1)

A

Pancreatitis
Hepatosplenomegaly
Eruptive/pruritic xanthomas
CREAMY LAYER IN SUPERNATANT

(NO INC RISK FOR ATHEROSCLEROSIS)

18
Q

What is the clinical presentation of: ( 4 )
Familial hypercholesterolemia
(Familial dyslipidemia type 2)

A

Heterozygotes: cholesterol 300 mg/dL
Homozygotes: cholesterol 700+ mg/dL

Accelerated atherosclerosis (MI pre 20)
Tendon (achilles) xanthomas
Conreal arcus
19
Q

What is the clinical presentation of: ( 3 )
Dysbetalipoproteinemia
(Familial dyslipidemia type 3)

A

Premature atherosclerosis
Tuberoeruptive xanthomas
Palmar xanthomas

20
Q

What is the clinical presentation of: ( 3 )
Hypertriglyceridemia
(Familial dyslipidemia type 4)

A

Hypertriglyceridemia (>1000 mg/dL)
Can cause acute pancreatitis
RELATED TO INSULIN RESITANCE

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