A 34-year-old woman with family history of premature coronary artery disease presents with elevated lipids. Vital signs are normal; BP 118/76 mmHg, HR 72/min, RR 14/min. Laboratory studies show LDL cholesterol 180 mg/dL, apoB-100 150 mg/dL (normal <100), and triglycerides 95 mg/dL. LDL receptor binding is normal on functional testing. She denies statin use. No xanthomas are present on examination. Which genetic condition best explains her lipid profile?
- A)Familial defective apolipoprotein B-100GABARITO
- B)PCSK9 gain-of-function mutation
- C)Familial hypoalphalipoproteinemia
- D)Lipoprotein(a) hyperlipoproteinemia
- E)Familial hypercholesterolemia
Explicação
This patient has familial defective apoB-100 (FDB), caused by mutations in the apoB gene that impair LDL receptor binding. The key distinguishing feature is elevated LDL cholesterol with elevated apoB-100, combined with normal LDL receptor function. This indic... Ver explicação completa e trilha adaptativa →