A young type III hyperlipoproteinemic patient associated with apolipoprotein E deficiency.
A 13-year-old female patient had noticed tuberoeruptive xanthomas since 3 years of age. Her serum, VLDL, and IDL cholesterol levels were high (348, 158, and 60 mg/dL, respectively), while LDL and HDL cholesterol levels were 56 and 62 mg/dL, respectively. VLDL-cholesterol/serum triglyceride ratio was extremely high (0.86), suggesting type III hyperlipoproteinemia (HLP). Her apo E was undetectable by the single radial immunodiffusion studies and SDS-polyacrylamide gel electrophoresis. Her parents showed hypertriglyceridemia and her two siblings were normolipidemic, and their apo E levels were normal. Genomic DNA digested with BamHI or EcoRI did not show gross differences in the restriction fragment length between the apo-E-deficient patient and normal controls. Thus, apo E deficiency may be characterized by early appearance of clinical manifestations of type III HLP and higher VLDL-cholesterol/serum triglyceride ratio.
Mabuchi
H
H
Department of Internal Medicine, Kanazawa University School of Medicine, Kanazawa, Japan.
Itoh
H
H
Takeda
M
M
Kajinami
K
K
Wakasugi
T
T
Koizumi
J
J
Takeda
R
R
Asagami
C
C
D000293:Adolescent; D001053:Apolipoproteins / Q000097:blood; D001057:Apolipoproteins E / Q000097:blood / Q000172:deficiency*; D002788:Cholesterol Esters / Q000097:blood; D005260:Female; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood* / Q000150:complications / Q000235:genetics; D008074:Lipoproteins / Q000097:blood; D008297:Male; D014280:Triglycerides / Q000097:blood; D014972:Xanthogranuloma, Juvenile / Q000150:complications
D001053:Apolipoproteins; D001057:Apolipoproteins E; D002788:Cholesterol Esters; D008074:Lipoproteins; D014280:Triglycerides