A 50-Year-Old Patient with Homozygous Familial Hypercholesterolemia
1989 年 7 巻 2 号 p. 161-167
詳細
1989 年 7 巻 2 号 p. 161-167
We report a 50-year-old male with homozygous familial hypercholesterolemia. His plasma cholesterol level was over 600mg/dl. He had suffered from ischemic heart disease since age 20. Receptor assay utilizing skin fibroblasts revealed that he was a homozygote for receptornegative familial hypercholesterolemia. In addition, his fibroblasts synthesized no immunoprecipitable low-density lipoprotein receptor. Considering his disease, his life is extraordinarily long; this is, in part, attributable to his dietary habits.
