Abstract
We report characteristics of familial hypercholesterolemia associated with a high prevalence of obesity, glucose intolerance, and atherosclerotic vascular disease. Of the family members examined, obesity was found in 88%, hypercholesterolemia in 82%, glucose intolerance in 60%, and macrovascular involvements in 45%. Mean (±SE) body mass index and plasma cholesterol concentrations were 28.0±1.1 kg/m2 and 389±17 mg/dl in affected members, respectively. Four members developed coronary artery disease and one developed cerebral infarction. They were all hypercholesterolemic females and had atherosclerotic vascular disease before 65 years of age. Two of these women died of vascular events in their early sixties. Large vessel disease developed in 5 out of 7 females (71%) who survived more than 50 years. Four out of these 5 members had obesity and/or diabetes mellitus in addition to hypercholesterolemia. One hypercholesterolemic female with diabetes mellitus and obesity as well as angina pectoris had three children who were all obese and hypercholesterolemic, even though her husband had a normal plasma cholesterol level of 169 mg/dl. The body mass index and plasma cholesterol concentration averaged 28.0±0.7 kg/m2 and 395±42 mg/dl, respectively in the children. In addition, the two sons had glucose intolerance.
