title: An Interesting Case of Familial Homozygous Hypercholesterolemia-A Brief Review.
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.
authors.affiliation: Department of Biochemistry, Mysore Medical College & Research Institute, Mysore, 570001 Karnataka India.
authors.forename: Shubha
authors.initials: S
authors.lastname: Jayaram
authors.affiliation: Department of Biochemistry, Mysore Medical College & Research Institute, Mysore, 570001 Karnataka India.
authors.forename: S
authors.initials: S
authors.lastname: Meera
authors.affiliation: Department of Biochemistry, Mysore Medical College & Research Institute, Mysore, 570001 Karnataka India.
authors.forename: Sumangala
authors.initials: S
authors.lastname: Kadi
authors.affiliation: Department of Pathology, Mysore Medical College & Research Institute, Mysore, 570001 Karnataka India.
authors.forename: N
authors.initials: N
authors.lastname: Sreenivasa
keywords: Homozygous; Hypercholesterolemia; Xanthomas