A 5-year-old boy presents with recurrent episodes of severe abdominal pain and eruptive yellow papules over extensor surfaces. Vital signs show BP 110/68 mmHg, HR 98/min, RR 20/min, temperature 37°C. Physical examination reveals lipemia retinalis and hepatosplenomegaly. Laboratory studies show fasting triglycerides of 1,200 mg/dL (normal <150), total cholesterol 350 mg/dL, and normal LDL levels. No lipemic serum is noted on repeat sampling. Which of the following proteins is most likely deficient?
- A)Apolipoprotein E
- B)Apolipoprotein CII or lipoprotein lipaseGABARITO
- C)Apolipoprotein B100
- D)Microsomal triglyceride transfer protein
- E)LDL receptor
Explicação
Familial chylomicronemia presents in childhood with hypertriglyceridemia, pancreatitis, eruptive xanthomas, and lipemia retinalis. It is caused by deficiency of lipoprotein lipase or its activator apolipoprotein CII, preventing triglyceride clearance from chyl... Ver explicação completa e trilha adaptativa →