Serum lipid and lipoprotein levels were studied in 23 normal subjects, 50 heterozygous and 4 homozygous patients with familial hypercholeste-rolemia (FH).
1) The mean±SD of serum cholesterol (CHOL) levels in the normal subjects, the heterozygotes and the homozygotes were 165±22, 342±47 and 532±44mg/dl, respectively.
2) The hyperlipidemias observed in FH were selectively due to the raised LDL concentration in itself.
3) The LDL-CHOL levels in the normal subjects, the heterozygotes and the homozygotes were 102±21, 265±66, 463±63mg/dl, respectively.
4) The serum CHOL levels correlated highly with the LDL-CHOL levels (r: 0.980, p<0.01).
5) The serum phospholipid (PL) levels highly correlated with that of the LDL-PL (r: 0.925, p<0.01).
6) FH is a disease characterized by high concentrations of LDL with an increased proportion of CHOL and a decreased proportion of triglyceride and PL.
