title: A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis.
abstract: BACKGROUND
  Familial lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder caused by mutations in the LPL gene. Patients with LPL deficiency have chylomicronemia; however, whether they develop accelerated atherosclerosis remains unclear.
  
  
  METHODS
  We investigated clinical and mutational characteristics of a 60-y-old Japanese patient with chylomicronemia.
  
  
  RESULTS
  The patient's fasting plasma triglyceride levels were >9.0 mmol/l. In postheparin plasma, one fifth of the normal LPL protein mass was present; however, LPL activity was undetectable. Molecular analysis of the LPL gene showed the patient to be a homozygote of missense mutation replacing glycine with glutamine at codon 188 (G188E), which had been known to produce mutant LPL protein lacking lipolytic activity. Ultrasonographic examination of the patient's carotid and femoral arteries showed no accelerated atherosclerosis. Moreover, 64-slice mechanical multidetector-row computer tomography (MDCT) angiography did not detect any accelerated atherosclerotic lesions in the patient's coronary arteries. The patient had none of the risk factors such as smoking, hypertension, and diabetes.
  
  
  CONCLUSIONS
  Our case suggests that accelerated atherosclerosis may not develop in patients with LPL deficiency, when they have no risk factors.
authors.affiliation: Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Tokyo 105-8470, Japan.
authors.forename: Tetsu
authors.initials: T
authors.lastname: Ebara
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Endo
authors.forename: Shouichi
authors.initials: S
authors.lastname: Yoshiike
authors.forename: Masatomi
authors.initials: M
authors.lastname: Tsuji
authors.forename: Susumu
authors.initials: S
authors.lastname: Taguchi
authors.forename: Toshio
authors.initials: T
authors.lastname: Murase
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
mesh_terms: D044466:Asian People / Q000235:genetics; D050197:Atherosclerosis / Q000235:genetics* / Q000473:pathology; D017023:Coronary Angiography; D005260:Female; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014280:Triglycerides / Q000097:blood; D014463:Ultrasonography
chemical_list: D014280:Triglycerides; D008071:Lipoprotein Lipase