Characterization of plasma lipids and lipoproteins in patients with beta 2-glycoprotein I (apolipoprotein H) deficiency.
The fasting plasma lipids, lipoproteins, and apolipoproteins were evaluated in 5 subjects with undetectable levels of the plasma protein beta 2-glycoprotein I (apolipoprotein H). Family studies confirmed an autosomal co-dominant inheritance pattern for the concentrations of apo H. The total lack of this protein is rare and less than 0.3% of clinic patients demonstrated levels undetectable by radial immunodiffusion. Plasma lipoprotein evaluation in these subjects with beta 2-glycoprotein I absence by analytical ultracentrifugation and compositional analysis demonstrated low concentrations of HDL2b and HDL3. More striking, however, was the lack of a consistent marked effect on the plasma lipoproteins as is found in other apolipoprotein deficiency states. We conclude that the lack of apolipoprotein H does not result in a significant perturbation of normal lipoprotein metabolism as reflected by analysis of fasting plasma lipoproteins. Further study is required to evaluate the role of this glycoprotein in the metabolism of triglyceride-rich lipoproteins.
D000328:Adult; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D005779:Immunodiffusion; D008055:Lipids / Q000097:blood*; D008074:Lipoproteins / Q000097:blood*; D008075:Lipoproteins, HDL / Q000097:blood; D053439:Lipoproteins, HDL2; D053440:Lipoproteins, HDL3; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014280:Triglycerides / Q000097:blood; D014461:Ultracentrifugation; D053482:beta 2-Glycoprotein I
D006023:Glycoproteins; D008055:Lipids; D008074:Lipoproteins; D008075:Lipoproteins, HDL; D053439:Lipoproteins, HDL2; D053440:Lipoproteins, HDL3; D014280:Triglycerides; D053482:beta 2-Glycoprotein I