家族性高コレステロール血症の冠動脈病変

抄録

Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by hypercholesterolemia, tendon xanthomas and premature coronary heart disease. In this paper we report characteristics of coronary heart disease in patients with FH.
Causes of death in 5 homozygous patients with FH were congestive heart failure (n=2) and sudden death (n=3). Their average age of death was 26±11 years (mean+SD). Average serum cholesterol and triglyceride levels were 726±123 mg/dl and 206±66 mg/dl, respectively.
Causes of death in 36 heterozgous patients with FH were myocardial infarction (n=16), sudden death (n=9) and death after coronary A-C bypass surgery (n=1). Thus, “cardiac death” was observed in 26 patients (72%). Average age of death was 66±8 years in males and 66±8 years in females. Their serum cholesterol levels were 368±63 mg/dl in males and 378±76 mg/dl in females.
Coronary angiographic examinations showed coronary stenosis in all the three homozygotes performed coronary angiography. Two homozygotes showed supravalvular aortic stenosis and one homozygote showed coronary ectasia.
Coronary angiographic comparisons were made of the extent and severity of coronary artery disease in 61 heterozygotes with FH and 279 patients without FH. The incidences of coronary stenosis and myocardial infarction were significantly higher in the FH compared to the non-FH. In addition, coronary ectasia also was observed more frequently in the FH than in the non-FH. There were no significant differences in coronary heart diseases between male and female FH patients.