A kindred of familial combined hyperlipidemia (FCHL) with proband showing type V hyperlipoproteinemia.
A case of familial hyperlipidemia incidentally found through a 16 year-old high school girl with type V hyperlipoproteinemia and abdominal bouts consistent with this type of hyperlipemia is reported for the first time in Japan. The laboratory findings of the plasma of her father revealed typical hyperlipoproteinemia of type IIa. Nineteen of her 26 kindred were investigated. Type V was seen only in the proband, type IIa in father, paternal grandmother, two paternal aunts, and two paternal cousins, type IV in three paternal cousins. The serum apolipoprotein (apo A-I, A-II, B, C-II, C-III, and E) concentrations were determined by the single radial immunodiffusion technique. The apolipoprotein concentrations were not different from those of normolipidemic control subjects except for apo B, which was higher in the hyperlipidemic members, and apo C-II, C-III, and E, which were higher in the proband.
D000293:Adolescent; D001055:Apolipoproteins B / Q000097:blood; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000097:blood / Q000235:genetics*; D006954:Hyperlipoproteinemia Type V / Q000097:blood / Q000235:genetics*; D008297:Male; D010375:Pedigree
D001055:Apolipoproteins B; D002784:Cholesterol