No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61→Stop) in the lipoprotein lipase gene
- 作者：Ebara ; Tetsu ; Okubo ; Minoru ; Horinishi ; Asako ; Adachi ; Mitsuru ; Murase ; Toshio ; Hirano ; Tsutomu
- 关键词：Lipoprotein lipase deficiency ; Chylomicronemia ; Hypertriglyceridemia ; Nonsense mutation ; Atherosclerosis ; Carotid ultrasonogram
- 刊名：Atherosclerosis
- 出版年：2001
- 期刊代码：28_00219150
- 类别：med
- 出版时间：December, 2001
- 卷：159
- 期：2
- 页码：375-379
- 文件大小：254 K
摘要
Whether chylomicronemia is atherogenic or not has yet to be determined in humans. We investigated a 66-yr-old female with severe chylomicronemia resulting from a lipoprotein lipase (LPL) deficiency. The patient's plasma triglyceride level was 
2000 mg/dl. Both LPL activity and the mass of postheparin plasma in this patient were virtually absent. A nonsense mutation in exon 3 (Tyr61→Stop) was identified in the patient's LPL gene, and a restriction fragment length polymorphism analysis established that the patient was homozygous for this mutation. The patient was neither a diabetic nor a smoker. Clinically, the patient had never experienced pancreatitis or angia pectoris. An examination of her carotid, femoral and coronary arteries by ultrasonogram and electrocardiogram after exercise-tolerance testing showed no accelerated atherosclerosis. This case suggests that atherosclerosis may not occur despite massive hyperlipidemia, when LPL bridging was not present due to the absence of LPL secretion and circulating mass.
2000 mg/dl. Both LPL activity and the mass of postheparin plasma in this patient were virtually absent. A nonsense mutation in exon 3 (Tyr61→Stop) was identified in the patient's LPL gene, and a restriction fragment length polymorphism analysis established that the patient was homozygous for this mutation. The patient was neither a diabetic nor a smoker. Clinically, the patient had never experienced pancreatitis or angia pectoris. An examination of her carotid, femoral and coronary arteries by ultrasonogram and electrocardiogram after exercise-tolerance testing showed no accelerated atherosclerosis. This case suggests that atherosclerosis may not occur despite massive hyperlipidemia, when LPL bridging was not present due to the absence of LPL secretion and circulating mass.