Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
| Autor: | Pedro Mata L, Francisco Javier Callejas Gonzalez, Rodrigo Alonso K, Ada Cuevas M, Attilio Rigotti R, Antonio Arteaga Ll, Sergio García Castillo |
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| Rok vydání: | 2007 |
| Předmět: |
Ldl receptor gene
Simvastatin medicine.medical_specialty Mutation Apolipoprotein B biology business.industry Blood lipids Hypercholesterolemia familial combined General Medicine Familial hypercholesterolemia Ezetimibe medicine.disease medicine.disease_cause Lipid-lowering therapy LDL receptor related proteins Endocrinology Internal medicine medicine biology.protein lipids (amino acids peptides and proteins) business Gene medicine.drug |
| Zdroj: | Revista médica de Chile v.135 n.2 2007 SciELO Chile CONICYT Chile instacron:CONICYT |
| ISSN: | 0034-9887 |
| DOI: | 10.4067/s0034-98872007000200011 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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