A 45-year-old man presents with xanthomas on his Achilles tendons and eyelids, along with corneal arcus. Laboratory studies show total cholesterol of 650 mg/dL and LDL of 520 mg/dL despite dietary modification. His father died of myocardial infarction at age 52. Which of the following genetic mutations is most likely responsible for this condition?
- A)Loss-of-function mutation in CETP
- B)Gain-of-function mutation in PCSK9
- C)Mutation in the apoB-100 binding domain
- D)Deficiency of lipoprotein lipase
- E)Loss-of-function mutation in the LDL receptor geneGABARITO
Explicação
This patient has familial hypercholesterolemia (FH) with premature coronary disease and xanthomas. The classic presentation of heterozygous FH results from loss-of-function mutations in the LDL receptor gene, leading to impaired hepatic uptake of LDL particles... Ver explicação completa e trilha adaptativa →