Patients that are homozygous for
familial hypercholesterolemia (FH) exhibit severe
hypercholesterolemia, cutaneous and tendon
xanthomas and premature
atherosclerosis beginning in childhood. They are resistant to
drug therapy and
low-density lipoprotein (
LDL)
apheresis is the practical treatment. Here we review the technique of
LDL apheresis treatment, the long-term effects of
LDL apheresis, the effect of
apheresis on pregnancy, and the drugs that have proven beneficial in patients with homozygous FH. We also record our experiences of treating eight homozygous FH patients using the
LDL apheresis treatment. Among the eight patients, one has been free from
cardiovascular disease and two patients have each regressed once. In two patients,
aortic valve stenosis developed and the other two patients died for acute
myocardial infarction. Furthermore, two patients delivered healthy babies in spite of
coronary artery disease. Thus,
LDL apheresis therapy has the possibility of preventing the progression of
atherosclerosis, but the prognosis assessed by long-term observation is still not satisfactory. A recent clinical trial showed some efficacy of the combination
therapy of
LDL apheresis and
atorvastatin for reducing serum
cholesterol levels in homozygous FH, suggesting that this combination
therapy may be useful for prevention of
atherosclerosis in patients homozygous for FH.