A 61-year-old woman with hyperlipidemia presents with corneal opacities and tendon xanthomas. Her lipid panel shows total cholesterol 520 mg/dL, LDL 380 mg/dL, and HDL 45 mg/dL. She has a family history of premature coronary artery disease and sudden cardiac death. Which of the following genetic mutations most likely explains this presentation?

  1. A)Loss-of-function mutation in ABCA1 gene
  2. B)Gain-of-function mutation in apolipoprotein B gene
  3. C)Loss-of-function mutation in lipoprotein lipase gene
  4. D)Gain-of-function mutation in PCSK9 gene
  5. E)Loss-of-function mutation in LDL receptor geneGABARITO

Explicação

Heterozygous familial hypercholesterolemia (FH) results from LDL receptor mutations, causing severely elevated LDL with xanthomas and premature atherosclerosis. This is the most common severe dyslipidemia inherited disorder affecting 1 in 250-500 people. Ver explicação completa e trilha adaptativa →

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