Pseudohomozygous and pseudoheterozygous type II hyperlipoproteinemia.
A 4-year-old boy had typical features of homozygous type II hyperlipoproteinemia with planar xanthomas, a plasma cholesterol level greater than 600 mg/dl, and an estimated beta-lipoprotein cholesterol concentration greater than 500 mg/dl. Both he and his sister, who had the biochemical features of the heterozygous state, responded unusually well to a diet low in saturated fat and cholesterol content. These features, combined with the finding of normocholesterolemic parents, are highly suggestive of a newly described syndrome. pseudohomozygous type II hyperlipoproteinemia.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D010375:Pedigree; D010743:Phospholipids / Q000097:blood; D014280:Triglycerides / Q000097:blood
D008077:Lipoproteins, LDL; D010743:Phospholipids; D014280:Triglycerides; D002784:Cholesterol