Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia. Report of one case

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 fema...

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Bibliographic Details
Published in:Revista medíca de Chile 2007-02, Vol.135 (2), p.216-220
Main Authors: Arteaga Ll, Antonio, Cuevas M, Ada, Rigotti R, Attilio, González, Francisco, Castillo, Sergio, Mata L, Pedro, Alonso K, Rodrigo
Format: Article
Language:eng ; spa
Subjects:
Anticholesteremic Agents - therapeutic use
Azetidines - therapeutic use
Cholesterol, LDL - drug effects
Ezetimibe
Female
Heterozygote
Humans
Hypercholesterolemia - drug therapy
Hypercholesterolemia - genetics
LDL-Receptor Related Proteins - drug effects
LDL-Receptor Related Proteins - genetics
Middle Aged
Mutation
Oligonucleotide Array Sequence Analysis
Prognosis
Simvastatin - therapeutic use
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Summary: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.
ISSN:0034-9887