Familial dyslipidemias Flashcards

1
Q

Kid with pancreatitis, HSM, and eruptive/pruritic xanthomas. Dx?

A

Hyperchylomicronemia

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2
Q

What is the MC presenting feature of familial hypertriglyceridemia?

A

Pancreatitis

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3
Q

30 y/o w/ bad atherosclerosis, Achilles tendon xanthomas, and corneal arcus. Dx?

A

Familial hypercholesterolemia

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4
Q

What’s the underlying defect in familial hypertriglyceridemia? Inheritance pattern?

A

Hepatic overproduction of VLDL. AD.

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5
Q

Which 2 mutations can cause familial hyperchylomicronemia? Inheritance pattern?

A

Lipoprotein lipase deficiency
Altered apolipoprotein C
AR

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6
Q

What is absent or defective in familial hypercholesterolemia? Inheritance pattern?

A

LDL receptors

AD

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7
Q

Which of the 3 main familial dyslipidemias presents with increased VLDL and TG?

A

Hypertriglyceridemia

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8
Q

Which of the 3 main familial dyslipidemias presents with increased LDL and CH?

A

Familial hypercholesterolemia

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9
Q

Which of the 3 main familial dyslipidemias presents with increased CMs, TG, and CH?

A

Hyperchylomicronemia

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