A 45-year-old man with type 2 diabetes presents with eruptive xanthomas on his elbows and palms. Vital signs: BP 148/92 mmHg, HR 88 bpm, RR 16, Temp 37°C, SpO2 98% RA. Labs show triglycerides 800 mg/dL, total cholesterol 520 mg/dL, LDL 180 mg/dL despite atorvastatin 40 mg daily, and normal apoB-100 synthesis. Liver enzymes and renal function are normal. Which lipoprotein metabolism defect best explains his phenotype?
- A)Impaired hepatic triglyceride lipase activityGABARITO
- B)Decreased LDL receptor expression
- C)Familial chylomicronemia syndrome
- D)Absent apolipoprotein C-II
- E)Hepatic lipase deficiency
Explicação
This patient has hepatic triglyceride lipase (HTGL) deficiency. While lipoprotein lipase (LPL) clears chylomicrons and VLDL via apoC-II activation, HTGL remodels intermediate-density lipoproteins (IDLs) and removes triglycerides from HDL. HTGL deficiency cause... Ver explicação completa e trilha adaptativa →