A/49 Flashcards

1
Q

Type of heredity of FamHC?

A

autosomal dominant

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2
Q

Frequency of familial hypercholesterolemia?

A

1 / 500

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3
Q

Difference between homozygotes and heterozygotes in familial hypercholesterolemia?

A
  • heterozygotes : 2-3 increase of cholesterol level

- homozygotes : up to 5x increase & younger

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4
Q

Clinical presentations of familial hypercholesterolemia? (2)

A
  • skin and tendon sheath xanthomas

- premature AS

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5
Q

Drugs used to treat familial hypercholesterolemia?

A

Statins

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6
Q

Pathogenesis of FamHC?

A
  • Impaired transport of LDL : high plasma levels

- Impaired IDL

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