| Abstract: | Abstract: Familial hypercholesterolemia (FH) is a congenital disorder of cholesterol metabolism, which is due to a deficiency in low‐density lipoprotein (LDL) receptors. The homozygous form of FH is especially liable to coronary artery disease (CAD) in youth because of the very high LDL‐cholesterol levels. It is resistant to drug therapy, and LDL‐apheresis is the only practical way of treatment for these patients. Some patients with heterozygous FH also have high LDL‐cholesterol levels that cannot be brought down into the optimum range by any combination drug therapy. We have treated or are treating 10 homozygous and 28 heterozygous FH patients in our hospital or in affiliated hospitals expert in blood purification. Among the 10 homozygous patients, 2 died of myocardial infarction. Only one young female patient is still free of symptoms, and the other patients have been suffering from regurgitation through the aortic valve although they have not experienced myocardial infarction. Rapid rebound of LDL‐cholesterol after each apheresis treatment limits the period during which LDL‐cholesterol is in the optimum range. The use of atorvastatin at a high dose (40 mg/day) was attempted to suppress this rebound. In contrast with good results in receptor‐defective‐type patients, receptor‐negative‐type patients did not show a response in LDL‐cholesterol levels to the statin therapy although there was a slight increase in high‐density lipoprotein (HDL)‐cholesterol with a decrease in very‐low‐density lipoprotein‐triglyceride and ‐cholesterol. Follow‐up study of the patients with heterozygous FH revealed that LDL‐apheresis was effective in lengthening the life expectancy of the patients with pre‐existing CAD, especially those who had received intervention coronary artery bypass grafting (CABG) or percutaneous transluminal coronary angioplasty (PTCA). It was also shown that the use of probucol in combination with LDL‐apheresis was effective in reducing coronary events as shown by the necessity of CABG or PTCA. Clinical data on the effect of LDL‐apheresis, recently reported from some other institutions in Japan, will also be reviewed. |
