No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61-->stop) in the lipoprotein lipase gene.
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 approximately 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.
Ebara
T
T
Department of Endocrinology and Metabolism, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105-8470, Tokyo, Japan.
Okubo
M
M
Horinishi
A
A
Adachi
M
M
Murase
T
T
Hirano
T
T
D000368:Aged; D001161:Arteriosclerosis / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D002339:Carotid Arteries / Q000000981:diagnostic imaging; D018389:Codon, Nonsense; D017023:Coronary Angiography; D018450:Disease Progression; D004562:Electrocardiography; D005080:Exercise Test; D005260:Female; D005500:Follow-Up Studies; D005786:Gene Expression Regulation; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012720:Severity of Illness Index; D014463:Ultrasonography
D018389:Codon, Nonsense; D008071:Lipoprotein Lipase