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

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dc.contributor.authorArteaga, Antonio
dc.contributor.authorCuevas, Ada
dc.contributor.authorRigotti, Attilio
dc.contributor.authorGonzalez, Francisco
dc.contributor.authorCastillo, Sergio
dc.contributor.authorMata, Pedro
dc.contributor.authorAlonso, Rodrigo
dc.date.accessioned2024-01-10T13:15:05Z
dc.date.available2024-01-10T13:15:05Z
dc.date.issued2007
dc.description.abstractHeterozygous 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 hypercbolesterolemia. In 2003, a sample of leukocyte DNA was obtained and the uncommon 1705 + 1G > A mutation of the LDL receptorgene was detected. No mutations in the apolipoprotein B gene were,found. The patient was treated successfully with simvastatin SO mg/day and ezetimibe 10 mg/day and LDL cholesterol levels were reduced below 200 mg/dl.
dc.fechaingreso.objetodigital2024-06-13
dc.format.extent5 páginas
dc.fuente.origenWOS
dc.identifier.doi10.4067/s0034-98872007000200011
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:17406740
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78470
dc.identifier.wosidWOS:000245412600011
dc.information.autorucMedicina;Arteaga A;S/I;97844
dc.information.autorucMedicina;Rigotti A;S/I;68489
dc.issue.numero2
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final220
dc.pagina.inicio216
dc.publisherSOC MEDICA SANTIAGO
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsacceso restringido
dc.subjectezetimibe
dc.subjecthypercholesterolemia, familial combined
dc.subjectLDL receptor related proteins
dc.subjectsimvastatin
dc.subjectEZETIMIBE
dc.subjectATORVASTATIN
dc.subjectSIMVASTATIN
dc.subjectEFFICACY
dc.subjectRECEPTOR
dc.subjectSAFETY
dc.subjectGENE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleMolecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia. Report of one case
dc.typeartículo
dc.volumen135
sipa.codpersvinculados97844
sipa.codpersvinculados68489
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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