Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico / Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia: Report of one case
Rev. méd. Chile
; 135(2): 216-220, feb. 2007. ilus
Article
in Spanish
| LILACS
| ID: lil-445062
Responsible library:
BR1.1
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Hypercholesterolemia
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2007
Document type:
Article
Affiliation country:
Chile
/
Spain
Institution/Affiliation country:
Clínica Las Condes/CL
/
Fundación Jiménez Díaz/ES
/
Laboratorio de Diagnóstico Genético Lácer/ES
/
Pontificia Universidad Católica de Chile/CL
/
Universidad de Valparaíso/CL