A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis.
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.
Ebara
Tetsu
T
Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Tokyo 105-8470, Japan.
Endo
Yoriko
Y
Yoshiike
Shouichi
S
Tsuji
Masatomi
M
Taguchi
Susumu
S
Murase
Toshio
T
Okubo
Minoru
M
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
D014280:Triglycerides; D008071:Lipoprotein Lipase