A 19-year-old man presents with severe chest pain and is found to have an acute myocardial infarction. His fasting lipid panel shows total cholesterol of 680 mg/dL, triglycerides of 920 mg/dL, and a dense band on lipoprotein electrophoresis. His father died of an MI at age 32. Which genetic defect is most consistent with this presentation?
- A)Homozygous familial hypercholesterolemia (LDL receptor mutations)GABARITO
- B)Familial combined hyperlipidemia with genetic predisposition to early MI
- C)Type III hyperlipoproteinemia (apoE2/E2 genotype)
- D)Heterozygous familial hypercholesterolemia with secondary hypertriglyceridemia
- E)Familial chylomicronemia syndrome with secondary atherosclerosis
Explicação
Homozygous familial hypercholesterolemia results from two mutant alleles of the LDL receptor gene. This causes severe LDL cholesterol elevation (often >600 mg/dL), widespread xanthomas, acute coronary disease in childhood/adolescence, and aortic stenosis. The ... Ver explicação completa e trilha adaptativa →