| Literature DB >> 26405394 |
Shubha Jayaram1, S Meera1, Sumangala Kadi1, N Sreenivasa2.
Abstract
Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia, is an autosomal co-dominant disorder, characterized by an increase in serum LDL cholesterol concentrations, presence of xanthomas and premature atherosclerosis. Homozygous familial hypercholesterolemia is of rare occurence in which approximately 1 in 1 million persons in the general population are affected. Here we report an interesting case of familial homozygous hypercholesterolemia for its classical presentation and rarity.Entities:
Keywords: Homozygous; Hypercholesterolemia; Xanthomas
Year: 2011 PMID: 26405394 PMCID: PMC4577508 DOI: 10.1007/s12291-011-0165-8
Source DB: PubMed Journal: Indian J Clin Biochem ISSN: 0970-1915