Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico

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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Autores principales:	Arteaga Ll,Antonio, Cuevas M,Ada, Rigotti R,Attilio, González,Francisco, Castillo,Sergio, Mata L,Pedro, Alonso K,Rodrigo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2007
Materias:	Ezetimibe Hypercholesterolemia, familial combined LDL receptor related proteins Simvastatin
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007000200011
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spelling	oai:scielo:S0034-988720070002000112007-03-28Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínicoArteaga Ll,AntonioCuevas M,AdaRigotti R,AttilioGonzález,FranciscoCastillo,SergioMata L,PedroAlonso K,Rodrigo Ezetimibe Hypercholesterolemia, familial combined LDL receptor related proteins Simvastatin 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/dlinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.135 n.2 20072007-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007000200011es10.4067/S0034-98872007000200011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Ezetimibe Hypercholesterolemia, familial combined LDL receptor related proteins Simvastatin
spellingShingle	Ezetimibe Hypercholesterolemia, familial combined LDL receptor related proteins Simvastatin Arteaga Ll,Antonio Cuevas M,Ada Rigotti R,Attilio González,Francisco Castillo,Sergio Mata L,Pedro Alonso K,Rodrigo Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
description	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
author	Arteaga Ll,Antonio Cuevas M,Ada Rigotti R,Attilio González,Francisco Castillo,Sergio Mata L,Pedro Alonso K,Rodrigo
author_facet	Arteaga Ll,Antonio Cuevas M,Ada Rigotti R,Attilio González,Francisco Castillo,Sergio Mata L,Pedro Alonso K,Rodrigo
author_sort	Arteaga Ll,Antonio
title	Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
title_short	Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
title_full	Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
title_fullStr	Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
title_full_unstemmed	Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico
title_sort	hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2007
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007000200011
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Hipercolesterolemia familiar heterocigota: diagnóstico molecular y terapia combinada. Caso clínico

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