抄録
The propositus was a 43-year-old Japanese male with a plasma total-chol level of 252mg/dl and a HDL chol level of 169mg/dl. His brother also had a markedly higher HDL-chol level of 149mg/dl. His mother, sister and 3 children had higher HDL-chol levels of 75-91mg/dl. Thus, the subject and his brother were diagnosed as homozygous familial hyperalphalipoproteinemia (FHALP), whereas his mother, sister and 3 children were diagnosed as heterozygous FHALP. None had any clinical signs of atherosclerosis. The subject and his brother (homozygous FHALP) also showed markedly higher levels of plasma apo E (>16mg/dl) and AI (>190mg/dl), and showed a complete deficiency of Cholesteryl ester transfer activity (0.0% transfer/5μl/18hr and 0.3% transfer/5μl/18hr, respectively). It is concluded that this case is a homozygous FHALP caused by a complete deficiency of Cholesteryl ester transfer activity.
