A 3-year-old girl from consanguineous parents presents to the emergency department with severe abdominal pain and recurrent pancreatitis. Vital signs show HR 120/min, BP 95/60, RR 24/min, temperature 38.2°C. Laboratory studies reveal lipemic serum, serum triglycerides 1500 mg/dL, and amylase 450 U/L. Serum lipoprotein lipase activity is markedly reduced. Apolipoprotein C-II levels are normal. Which of the following best explains the primary defect in triglyceride metabolism in this patient?
- A)Impaired hepatic uptake of remnant particles
- B)Defective apolipoprotein C-II production
- C)Impaired hepatic synthesis of VLDL
- D)Impaired hydrolysis of triglycerides in chylomicrons and VLDLGABARITO
- E)Deficiency of cholesterol ester transfer protein
Explicação
Type I hyperlipoproteinemia (familial lipoprotein lipase deficiency) presents with severe hypertriglyceridemia due to impaired hydrolysis of triglycerides. Lipoprotein lipase is the rate-limiting enzyme for clearance of chylomicrons and VLDL. The consanguinity... Ver explicação completa e trilha adaptativa →