A 29 year old man presents for evaluation of Achilles tendon thickening. His father had a myocardial infarction at age 38. Examination shows tendon xanthomas over both Achilles tendons. Fasting lipid panel shows markedly elevated LDL cholesterol with normal triglycerides. Which of the following is the most likely underlying defect?
- A)Defective apolipoprotein E mediated remnant clearance
- B)Defective apolipoprotein CII activation of lipoprotein lipase
- C)Defective LDL receptor mediated endocytosisGABARITO
- D)Defective microsomal triglyceride transfer protein
- E)Deficient lecithin cholesterol acyltransferase
Explicação
Familial hypercholesterolemia is classically due to LDL receptor defects that reduce hepatic uptake of LDL. Patients develop markedly elevated LDL levels, tendon xanthomas, and premature atherosclerotic cardiovascular disease. The family history of early myoca... Ver explicação completa e trilha adaptativa →