A 38-year-old woman presenting for routine screening has a total cholesterol of 680 mg/dL and LDL of 520 mg/dL despite never taking statins. Physical examination reveals tendon xanthomas over the Achilles tendon and corneal arcus. Her father died of myocardial infarction at age 42. Which of the following genetic mutations is most likely responsible?

  1. A)Gain-of-function mutation in apolipoprotein B-100
  2. B)Mutation in cholesterol 7α-hydroxylase gene
  3. C)Loss-of-function mutation in PCSK9 gene
  4. D)Deficiency of lipoprotein lipase
  5. E)Loss-of-function mutation in LDL receptor geneGABARITO

Explicação

This patient has familial hypercholesterolemia (FH), most commonly caused by loss-of-function mutations in the LDL receptor gene. FH is autosomal dominant; heterozygotes have 2-3× normal LDL levels and increased cardiovascular risk. Classic findings include te... Ver explicação completa e trilha adaptativa →

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