A 45-year-old man with a history of recurrent acute pancreatitis presents with eruptive xanthomas on his extensor surfaces. Vital signs show BP 138/82 mmHg, HR 88/min, RR 16/min, temp 37.2°C, SpO2 98%. Laboratory studies reveal triglycerides 3,500 mg/dL, total cholesterol 680 mg/dL, and lipase 180 U/L. Abdominal imaging shows pancreatic inflammation without ductal obstruction. Genetic testing confirms lipoprotein lipase gene mutation. Which pathophysiologic mechanism best explains his presentation?
- A)Decreased synthesis of apolipoprotein B-100 in hepatocytes
- B)Impaired hydrolysis of triglycerides in circulating chylomicrons and VLDLGABARITO
- C)Defective apolipoprotein C-II preventing VLDL uptake
- D)Increased activity of hepatic lipase leading to excessive lipolysis
- E)Impaired clearance of LDL particles via hepatic receptors
Explicação
Lipoprotein lipase (LPL) is the enzyme responsible for hydrolyzing triglycerides in circulating chylomicrons and VLDL particles. LPL deficiency leads to severe hypertriglyceridemia (Type I hyperlipoproteinemia), eruptive xanthomas, lipemia retinalis, hepatospl... Ver explicação completa e trilha adaptativa →