title: [Three-year-old boy--a homozygote for familiar hypercholesterolemia].
abstract: Homozygous familial hypercholesterolemia (FH) is a rare autosomal dominant disorder caused by mutations in the low-density-lipoprotein (LDL) receptor gene. It occurs with a frequency of approximately 1 per million persons world-wide. Clinically, homozygous FH is associated with extremely elevated levels of LDL cholesterol and cutaneous xanthomas that develop in early childhood. These children are at risk of extremely early coronary events and death from myocardial infarction caused by premature generalized atherosclerosis. Their medical treatment is very complex, associated with various problems and complications. We describe a 3-year-old boy with clinical signs of homozygous FH (elevated LDL-cholesterol levels and xanthomas). Heterozygous hypercholesterolemia was found in his parents and some other family members. The boy has been treated with simvastatin and atorvastatin, but without reaching the treatment goals. LDL apheresis is planned as the treatment of choice for homozygous children with FH.
authors: Klinika za pedijatriju Rebro, Medicinski fakultet i KBC Zagreb.
authors: Miroslav
authors: M
authors: Dumić
authors: Anita Spehar
authors: AS
authors: Uroic
authors: Igor
authors: I
authors: Francetić
authors: Zvonimir
authors: Z
authors: Puretić
authors: Danica
authors: D
authors: Matisić
authors: Petar
authors: P
authors: Kes
authors: Martina
authors: M
authors: Mikecin
authors: Zeljko
authors: Z
authors: Reiner
mesh_terms: D002675:Child, Preschool; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D011973:Receptors, LDL