A 19-year-old female with consanguineous parents presents with orbital and eruptive xanthomas on the buttocks. Vital signs: BP 118/76, HR 88, RR 16, Temp 37°C, SpO2 98%. Serum triglycerides are 1,200 mg/dL; lipase is normal. She denies abdominal pain. Genetic testing reveals homozygous loss-of-function mutations in the APOC2 gene. Which mechanism best explains persistently elevated triglycerides despite normal hepatic lipase activity?

  1. A)Impaired hepatic synthesis of apolipoprotein B-48 from enterocytes
  2. B)Increased clearance of chylomicrons via hepatic apoE receptors
  3. C)Absence of apoC-II cofactor prevents lipoprotein lipase activation at the capillary endotheliumGABARITO
  4. D)Reduced activity of lecithin-cholesterol acyltransferase in circulation
  5. E)Enhanced VLDL particle production by the liver

Explicação

ApoC-II is an essential cofactor and activator of lipoprotein lipase. Without apoC-II, lipoprotein lipase cannot efficiently hydrolyze triglycerides from chylomicrons and VLDL despite enzyme presence. This causes Type I hyperlipoproteinemia phenotype with seve... Ver explicação completa e trilha adaptativa →

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