title: [Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia. Report of one case].
abstract: Heterozygous familial hypercholesterolemia affects one every 400 individuals, is caused by mutations in the LDL receptor gene and is associated with premature coronary artery disease. Nowadays, LDL cholesterol can be efficiently reduced with the new therapies to reduce blood lipids. We report a female patient who consulted in 1975, when she was 46 years old, for severe hypercholesterolemia. In 2003, a sample of leukocyte DNA was obtained and the uncommon 1705+1G>A mutation of the LDL receptor gene was detected. No mutations in the apolipoprotein B gene were found. The patient was treated successfully with simvastatin 80 mg/day and ezetimibe 10 mg/day and LDL cholesterol levels were reduced below 200 mg/dl.
authors.affiliation: Departamentos de Diabetes, Nutrición y Metabolismo, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. aarteaga@med.puc.cl
authors.forename: Antonio
authors.initials: A
authors.lastname: Arteaga Ll
authors.forename: Ada
authors.initials: A
authors.lastname: Cuevas M
authors.forename: Attilio
authors.initials: A
authors.lastname: Rigotti R
authors.forename: Francisco
authors.initials: F
authors.lastname: González
authors.forename: Sergio
authors.initials: S
authors.lastname: Castillo
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata L
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso K
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001384:Azetidines / Q000627:therapeutic use; D008078:Cholesterol, LDL / Q000187:drug effects; D000069438:Ezetimibe; D005260:Female; D006579:Heterozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000188:drug therapy* / Q000235:genetics*; D026502:LDL-Receptor Related Proteins / Q000187:drug effects / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D011379:Prognosis; D019821:Simvastatin / Q000627:therapeutic use
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D026502:LDL-Receptor Related Proteins; D019821:Simvastatin; D000069438:Ezetimibe