Long-term (14 years) effect of LDL apheresis on obstructive changes in aortocoronary saphenous-vein bypass grafts in a case of heterozygous familial hypercholesterolemia with the LDL, receptor Proline(664) to leucine mutation

A 61-year-old Japanese woman with heterozygous familial hypercholesterolemi a (FH), type 2 diabetes mellitus and coronary artery disease underwent coro nary artery bypass grafting (CABG) utilizing a saphenous vein graft at the age of 46, in June 1984, 6 months before low density lipoprotein (LDL) aphe resis was started. She had received LDL apheresis every two weeks, along wi th combined drug treatment since the age of 47 (December 1984), She had bil ateral xanthelasma and Achilles tendon xanthomas, Her fasting baseline seru m total cholesterol and triglyceride level were 464 mg/dl and 57 mg/dl, res pectively at the age of 47 when she visited our hospital for the first time . Analysis of the genomic DNA from the patient revealed heterozygous amino acid substitution of Leu for Pro(664) in the LDL receptor gene. She was dia gnosed as type 2 diabetes mellitus at the age of 53, Combined treatment in the steady state yielded a pretreatment LDL cholesterol level of 230 +/- 14 mg/dl and a posttreatment level of 57+/-7.6. All grafts were widely patent after as long as 14 years since CABG, suggesting that LDL apheresis combin ed with drug therapy is highly effective in preventing the occlusion of byp ass grafts in a patient with heterozygous FH and type 2 diabetes mellitus.