A 3-year-old boy presents with failure to thrive, hepatosplenomegaly, and developmental delay. Vital signs show HR 102/min, RR 24/min, temp 37.8°C. Laboratory analysis reveals triglycerides 1200 mg/dL with milky serum; amylase elevated at 250 U/L. His mother reports severe abdominal pain and fever after fatty meals. He denies eruptive xanthomas. Currently takes no medications. Which enzyme deficiency best explains this presentation?
- A)Phospholipase A2
- B)Cholesteryl ester transfer protein
- C)Hepatic lipase
- D)HMG-CoA reductase
- E)Lipoprotein lipaseGABARITO
Explicação
Type I hyperlipoproteinemia results from lipoprotein lipase (LPL) deficiency, causing severe hypertriglyceridemia with chylomicrons accumulating in blood. Patients present with eruptive xanthomas, lipemic plasma, hepatosplenomegaly, and recurrent pancreatitis ... Ver explicação completa e trilha adaptativa →