Familial hyper-HDL-(a)-cholesterolemia.
In one family the mother, two children and a maternal aunt showed a hypercholesterolemic state characterized by a unusually high percentage of cholesterol in ultracentrifugally-recovered HDL-(a)-LP. An intensely stained a-band was present in all these subjects both in plasma and in ultracentrifugal fraction, with d greater than 1063. Symptoms or signs due to the hypercholesterolemic state were not present. The father was affected by Type IIA hypercholesterolemia. This lipid defect was also present in one of the two children.
D000328:Adult; D001797:Blood Protein Electrophoresis; D002648:Child; D002784:Cholesterol / Q000097:blood; D002850:Chromatography, Gel; D004035:Diet Therapy; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood / Q000235:genetics*; D007122:Immunoelectrophoresis; D008075:Lipoproteins, HDL / Q000097:blood*; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D014280:Triglycerides / Q000097:blood; D014461:Ultracentrifugation
D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D014280:Triglycerides; D002784:Cholesterol