Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica

dc.creatorAlves, Ana Catarina
dc.creatorAlonso, Rodrigo
dc.creatorDiaz-Diaz, José Luís
dc.creatorMedeiros, Ana Margarida
dc.creatorJannes, Cinthia E
dc.creatorMerchan, Alonso
dc.creatorVasques-Cardenas, Norma A
dc.creatorCuevas, Ada
dc.creatorChacra, Ana Paula
dc.creatorKrieger, Jose E
dc.creatorArroyo, Raquel
dc.creatorArrieta, Francisco
dc.creatorSchreier, Laura
dc.creatorCorral, Pablo
dc.creatorBañares, Virginia
dc.creatorAraujo, Maria B
dc.creatorBustos, Paula
dc.creatorAsenjo, Sylvia
dc.creatorStoll, Mario
dc.creatorDell'Oca, Nicolás
dc.creatorReyes, Maria
dc.creatorRessia, Andrés
dc.creatorCampo, Rafael
dc.creatorMagaña-Torres, Maria T
dc.creatorMetha, Roopa
dc.creatorAguilar-Salinas, Carlos A
dc.creatorCeballos-Macias, José J
dc.creatorRuiz Morales, Álvaro J
dc.creatorMata, Pedro
dc.creatorBourbon, Mafalda
dc.creatorSantos, Raul D
dc.date2020-08-12T17:35:00Z
dc.date2020-08-12T17:35:00Z
dc.date2020-10
dc.date.accessioned2023-08-29T20:06:56Z
dc.date.available2023-08-29T20:06:56Z
dc.identifier1524-4636
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/1639
dc.identifier10.1161/ATVBAHA.120.313722
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8519398
dc.descriptionFil: Alves, Ana Catarina. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal.
dc.descriptionFil: Alonso, Rodrigo. Center for Advanced Metabolic Medicine and Nutrition, Santiago; Chile.
dc.descriptionFil: Diaz-Diaz, José Luís. Hospital Universitario A Coruña. Department of Internal Medicine; España.
dc.descriptionFil: Medeiros, Ana Margarida. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal.
dc.descriptionFil: Jannes, Cinthia E. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.
dc.descriptionFil: Merchan, Alonso. Fundación Clinica SHAIO, Cardiología, Bogotá; Colombia.
dc.descriptionFil: Vasques-Cardenas, Norma A. Universidad Autónoma de Guadalajara. Facultad de Medicina Zapopan; México.
dc.descriptionFil: Cuevas, Ada. Center for Advanced Metabolic Medicine and Nutrition, Santiago; Chile.
dc.descriptionFil: Chacra, Ana Paula. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.
dc.descriptionFil: Krieger, Jose E. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.
dc.descriptionFil: Arroyo, Raquel. Fundación Hipercolesterolemia Familiar, Madrid; España.
dc.descriptionFil: Arrieta, Francisco. Hospital Ramón y Cajal. Departamento de Endocrinología, Madrid; España.
dc.descriptionFil: Schreier, Laura. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis; Argentina.
dc.descriptionFil: Corral, Pablo. Universidad FASTA. Facultad de Medicina. Cátedra Farmacología e Investigación, Mar del Plata; Argentina.
dc.descriptionFil: Bañares, Virginia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Genética Experimental; Argentina.
dc.descriptionFil: Araujo, Maria B. Hospital Garrahan. Servicio de Nutrición; Argentina.
dc.descriptionFil: Bustos, Paula. Universidad de Concepción. Facultad de Farmacia; Chile.
dc.descriptionFil: Asenjo, Sylvia. Universidad de Concepción. Facultad de Medicina; Chile.
dc.descriptionFil: Stoll, Mario. Programa GENYCO, Laboratorio de Genética Molecular. Comisión Honoraria de Salud Cardiovascular, Montevideo; Uruguay.
dc.descriptionFil: Dell'Oca, Nicolás. Programa GENYCO, Laboratorio de Genética Molecular. Comisión Honoraria de Salud Cardiovascular, Montevideo; Uruguay.
dc.descriptionFil: Reyes, Maria. Fundación Cardiovascular de Colombia. Cardiología; Bogotá.
dc.descriptionFil: Ressia, Andrés. Fundación Cardiovascular de Colombia. Cardiología; Bogotá.
dc.descriptionFil: Campo, Rafael. Instituto Mexicano del Seguro Social. Centro de Investigación Biomédica del Occidente, Guadalajara; México.
dc.descriptionFil: Magaña-Torres, Maria T. Instituto Nacional de Ciencias Médicas y Nutrición. Unidad de Investigación de Enfermedades Metabólicas; México.
dc.descriptionFil: Metha, Roopa. Instituto Nacional de Ciencias Médicas y Nutrición. Unidad de Investigación de Enfermedades Metabólicas; México.
dc.descriptionFil: Aguilar-Salinas, Carlos A. Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Departamento de Endocrinología y Metabolismo. Secretaría de la Defensa Nacional. Unidad de Especialidades Médicas. Servicio de Endocrinología; México.
dc.descriptionFil: Ceballos-Macias, José J. Pontificia Universidad Javerina. Facultad de Medicina. Departamento de Medicina Interna, Bogotá; Colombia.
dc.descriptionFil: Ruiz Morales, Álvaro J. Pontificia Universidad Javerina. Facultad de Medicina. Departamento de Medicina Interna, Bogotá; Colombia.
dc.descriptionFil: Mata, Pedro. Fundación Hipercolesterolemia Familiar, Madrid; España.
dc.descriptionFil: Bourbon, Mafalda. Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa; Portugal.
dc.descriptionFil: Santos, Raul D. University of São Paulo. Medical School. Hospital São Paulo. Heart Institute (InCor); Brasil.
dc.descriptionOBJECTIVE: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. APPROACH AND RESULTS: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). CONCLUSIONS: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.
dc.formatpdf
dc.languageen
dc.relationArteriosclerosis, thrombosis, and vascular biology
dc.rightsopen
dc.sourceArteriosclerosis, Thrombosis, and Vascular Biology 2020;40(10):2508-2515
dc.subjectAterosclerosis
dc.subjectEnfermedad Coronaria
dc.subjectColesterol
dc.subjectHipercolesterolemia
dc.subjectFenotipo
dc.titlePhenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica
dc.typeArtículo


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