Phenotypes of Hyperlipoproteinemia in Japan: -Analysis of 1, 500 Cases in Lipid Research Clinic of Osaka University Hospital-@@@―阪大高脂血症外来通院患者1,500例の検討―

One thousand and five hundred patients with hyperlipoproteinemia who consulted the lipid research clinic of Osaka University Hospital were subjected to analyze phenotype and genotype in order to estimate the prevalence of each phenotype and primary hyperlipoproteinemia. The most frequent types were type IIa (36.5%) and type IV (36.1%). Type IIa is also frequent (21.6%). Type I and type III and type V comprised 0.3%, 3.7% and 1.8% in total cases respectively. When analysed in each sex, type IIa was more frequent in female than in male (43.9% vs. 36.1%, 2.6% vs. 0.6%, respectively).Hyperlipidemic patients whose cholesterol levels were more than 300mg/dl comprise 33.8%, 39.5%, 19.4% and 59.3% in type IIa, IIb, III and V, respectively. There were 9 cases with homozygous familial hypercholesterolemia (FH) in 927 hyper-cholesterolemic patients. Hyperozygous FH diagnosed by LDL-receptor assay or presence of tendon xanthoma comprised 12.4% in hyper-cholesterolemic patients. FH shows not only IIa phenotype (71.3%), but also IIb (25.2%) and III (3.5%).Ten cases of classical type III with E2/2 pheno-type were present in 56 cases whose cholesterol and triglyceride levels were elevated and PAG-disc electrophoresis showed broad-β pattern.