Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency

摘要: Abstract Raised low-density lipoprotein (LDL) cholesterol is believed to predispose development of atherosclerosis and coronary heart disease. Increased plasma LDL concentrations premature disease are present in familial hypercholesterolemia (FH), the enzyme lipase (LPL) seems have a key role production LDL. We describe unique French Canadian individual who both heterozygous for FH homozygous LPL deficiency (FH/LPL). In this patient, was strikingly low compared with his (0·65 vs 5·84 mmol/L) normolipidaemic (2·77 age-matched relatives despite defect LDL-receptormediated removal. No peak profile FH/LPL-deficient subject, as determined by density-gradient ultracentrifugation. Our results suggest that most particles, vivo, originate from triglyceride-rich lipoproteins, plays vital part process, absence activity protects subjects against increase cholesterol.